ClinVar Miner

List of variants reported as uncertain significance for long QT syndrome by Baylor Genetics

Included ClinVar conditions (78):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911 0.00019
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) rs146022334 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) rs767728528 0.00004
NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg) rs768485016 0.00003
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_005751.5(AKAP9):c.48+5G>A rs377559019 0.00002
NM_001148.6(ANK2):c.1459G>T (p.Gly487Cys) rs1470709043 0.00001
NM_000238.4(KCNH2):c.2966-12C>G rs1800949572
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) rs765581751
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) rs1057524804
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala) rs761631834
NM_001148.6(ANK2):c.4341del (p.Asn1447_Leu1448insTer) rs2094804945
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe) rs1564029811
NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu) rs1990630503
NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys)
NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu) rs1816657238

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