ClinVar Miner

List of variants studied for long QT syndrome by Phosphorus, Inc.

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_001148.6(ANK2):c.4502C>T (p.Pro1501Leu) rs201071074 0.00001
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) rs776287498

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