ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome 1

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Total variants: 53
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HGVS dbSNP
NC_000011.10:g.2570628del
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
NM_000218.2(KCNQ1):c.321G>T (p.Gln107His) rs1554958092
NM_000218.2(KCNQ1):c.349C>T (p.Pro117Ser) rs886037906
NM_000218.2(KCNQ1):c.5C>G (p.Ala2Gly) rs199473442
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs)
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs)
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg)
NM_000218.3(KCNQ1):c.386+16231G>A
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer)
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)
NM_000238.3(KCNH2):c.2684C>T (p.Thr895Met) rs199473434
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) rs786204395
NM_001234.5(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_001234.5(CAV3):c.244G>A (p.Val82Ile) rs112626848
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.6(CALM2):c.328A>T (p.Met110Leu) rs1553431711
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_001743.6(CALM2):c.434T>G (p.Met145Arg) rs1558693760
NM_172056.2(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_181798.1(KCNQ1):c.1143del (p.Glu381fs) rs1564886349
NM_181798.1(KCNQ1):c.1171C>G (p.Arg391Gly) rs17215500
NM_181798.1(KCNQ1):c.1235G>A (p.Arg412Gln) rs199472794
NM_181798.1(KCNQ1):c.1310A>G (p.Asp437Gly) rs1554920808
NM_181798.1(KCNQ1):c.1316C>T (p.Ser439Phe) rs199472804
NM_181798.1(KCNQ1):c.1319T>C (p.Ile440Thr) rs199472805
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.1387G>A (p.Ala463Thr) rs199472813
NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) rs794728537
NM_181798.1(KCNQ1):c.140G>A (p.Arg47His) rs199472697
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.310C>T (p.Arg104Cys) rs199473457
NM_181798.1(KCNQ1):c.395G>A (p.Arg132His) rs199472720
NM_181798.1(KCNQ1):c.44del (p.Leu15fs) rs794728566
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187
NM_181798.1(KCNQ1):c.524C>T (p.Ala175Val) rs193922365
NM_181798.1(KCNQ1):c.553A>T (p.Thr185Ser) rs1554894445
NM_181798.1(KCNQ1):c.563A>G (p.Tyr188Cys) rs74462309
NM_181798.1(KCNQ1):c.584C>A (p.Thr195Lys) rs199472755
NM_181798.1(KCNQ1):c.635T>C (p.Phe212Ser) rs199472759
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_198056.2(SCN5A):c.2575C>T (p.Gln859Ter) rs794728865
NM_198056.2(SCN5A):c.3512-1G>C rs1553698563

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