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Items: 14

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:100751192
GRCh38:
Chr12:100357414
SLC17A8not specifiedGMAF:0.00520(T)Benign
(May 7, 2012)
criteria provided, single submitter
2.
GRCh37:
Chr12:100751223
GRCh38:
Chr12:100357445
SLC17A8not specifiedGO-ESP:0.01192(A)
GMAF:0.00880(A)
Benign
(May 7, 2012)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr12:100774548
GRCh38:
Chr12:100380770
SLC17A8not specifiedGO-ESP:0.00108(A)
GMAF:0.02760(A)
Benign
(May 7, 2012)
criteria provided, single submitter
4.
GRCh37:
Chr12:100774687
GRCh38:
Chr12:100380909
SLC17A8not specifiedUncertain significance
(Apr 11, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr12:100774713
GRCh38:
Chr12:100380935
SLC17A8not specifiedGO-ESP:0.00300(C)
GMAF:0.00160(C)
Benign
(May 7, 2012)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:100774735
GRCh38:
Chr12:100380957
SLC17A8not specifiedUncertain significance
(Nov 19, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr12:100784775
GRCh38:
Chr12:100390997
SLC17A8not specifiedGMAF:0.00820(A)Benign
(May 7, 2012)
criteria provided, single submitter
8.
GRCh37:
Chr12:100787220
GRCh38:
Chr12:100393442
SLC17A8not specifiedUncertain significance
(Sep 8, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr12:100795583
GRCh38:
Chr12:100401805
SLC17A8not specifiedUncertain significance
(Nov 26, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr12:100795589
GRCh38:
Chr12:100401811
SLC17A8not specifiedGO-ESP:0.01476(A)
GMAF:0.01760(A)
Benign
(May 7, 2012)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:100796208
GRCh38:
Chr12:100402430
SLC17A8not specifiedUncertain significance
(Oct 5, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr12:100811793
GRCh38:
Chr12:100418015
SLC17A8not specifiedBenign/Likely benign
(May 12, 2015)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:100811905
GRCh38:
Chr12:100418127
SLC17A8not specifiedUncertain significance
(Aug 19, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr12:100811913
GRCh38:
Chr12:100418135
SLC17A8not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitter
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