ClinVar Miner

List of variants studied for torsades de pointes

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.1423G>A (p.Gly475Arg) rs36210415 0.00006
NM_000335.5(SCN5A):c.871A>C (p.Asn291His) rs36210420 0.00002
NM_000218.3(KCNQ1):c.652A>G (p.Lys218Glu) rs36210419
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_001148.6(ANK2):c.2122G>A (p.Val708Met) rs36210416

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