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Results: 4

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
KCNH2not providedGO-ESP:0.16908(G)
GMAF:0.12950(G)
Uncertain significanceclassified by single submitter7150948446
2.
SCN5AAllHighlyPenetrant, not providedGO-ESP:0.24628(C)
GMAF:0.20570(C)
Benign/Likely benign
(Mar 11, 2013)
classified by multiple submitters338603929
3.
KCNQ1Cardiac arrhythmia, AllHighlyPenetrant, not provided
GO-ESP:0.08599(C)
GMAF:0.05790(C)
Benign/Likely benign
(Mar 4, 2013)
classified by multiple submitters112768933
4.
KCNE1Long QT syndrome 5, acquired, susceptibility to, Long QT syndrome 2/5, AllHighlyPenetrant,
not provided
GO-ESP:0.00877(T)conflicting data from submitters
(Jan 9, 2013)
classified by multiple submitters2134449382

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