ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome by Medical Research Institute, Tokyo Medical and Dental University

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.683+2T>G rs796052166
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.307+2T>A rs796052196
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu) rs755287627
NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr) rs796052197
NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala) rs796052198
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu) rs796052199
NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr) rs796052200
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe) rs796052171

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