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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:193336639
GRCh38:
Chr3:193618850
OPA1, OPA1-AS1not specifiedGO-ESP:0.42665(C)
GMAF:0.39240(C)
Benign
(Apr 4, 2014)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr3:193336666
GRCh38:
Chr3:193618877
OPA1, OPA1-AS1not specifiedGMAF:0.00040(A)Likely benign
(Apr 10, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr3:193336676
GRCh38:
Chr3:193618887
OPA1, OPA1-AS1not specifiedGO-ESP:0.02530(T)
GMAF:0.01900(T)
Benign
(Aug 7, 2013)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:193343873
GRCh38:
Chr3:193626084
OPA1, OPA1-AS1not specifiedGO-ESP:0.00569(T)
GMAF:0.00460(T)
Benign
(Jul 14, 2014)
criteria provided, multiple submitters, no conflicts
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