ClinVar Miner

List of variants reported as uncertain significance for long QT syndrome by New York Genome Center

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00018
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) rs773015884 0.00003
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000238.4(KCNH2):c.306T>C (p.Asp102=) rs1005025657 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000719.7(CACNA1C):c.4141-605G>A rs1054703481 0.00002
NM_001743.6(CALM2):c.420A>G (p.Glu140=) rs201444040 0.00002
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312 0.00001
NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala) rs1159352279 0.00001
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu) rs770830796 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)
NM_000219.6(KCNE1):c.-376-8A>T
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) rs199473434
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.4558C>A (p.Leu1520Ile) rs1032623545
NM_000719.7(CACNA1C):c.477+100598G>A
NM_000719.7(CACNA1C):c.5444+584T>G rs2153807364
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)
NM_174934.4(SCN4B):c.61+1144T>A rs2135509745
Single allele

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