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Results: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:51018204
GRCh38:
Chr22:50579775
CHKB, CHKB-CPT1Bnot providedGO-ESP:0.00461(C)
GMAF:0.00200(C)
Uncertain significance
(Aug 23, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr22:51020668
GRCh38:
Chr22:50582239
CHKB, CHKB-CPT1Bnot specifiedGO-ESP:0.56940(A)
GMAF:0.29670(C)
Likely benignno assertion criteria provided
3.
GRCh37:
Chr22:51020995
GRCh38:
Chr22:50582566
CHKB, CHKB-CPT1Bnot specifiedGO-ESP:0.01494(A)
GMAF:0.02160(A)
Likely benignno assertion criteria provided

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