ClinVar Miner

List of variants reported as pathogenic for long QT syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1027C>G (p.Pro343Ala)
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter) rs1564825414
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1804_1817delinsAAGTATGTAT (p.Leu602fs)
NM_000238.4(KCNH2):c.1819del (p.Ile607fs) rs2116960827
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.1930dup (p.Val644fs)
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro) rs199473665
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr) rs199472848
NM_000238.4(KCNH2):c.2743del (p.Ala915fs) rs2116933842
NM_000238.4(KCNH2):c.2745_2763del (p.Pro917fs)
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.3079del (p.Leu1027fs)
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
NM_000238.4(KCNH2):c.3355G>T (p.Glu1119Ter)
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000238.4(KCNH2):c.850_865del (p.Ser284fs)
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_005184.4(CALM3):c.286G>C (p.Asp96His) rs1060502607
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598

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