ClinVar Miner

List of variants reported as uncertain significance 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: 58
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000719.7(CACNA1C):c.2460+6G>A rs369246066 0.00029
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736 0.00006
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183 0.00002
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe) rs1456989889 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys) rs753966347 0.00001
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln) rs939435672 0.00001
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu) rs1339223823 0.00001
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser) rs1449906095 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000719.7(CACNA1C):c.4074+6C>T rs762974366 0.00001
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro) rs762182784 0.00001
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys) rs778550803 0.00001
NM_172201.2(KCNE2):c.160A>G (p.Met54Val) rs371724328 0.00001
NM_000218.3(KCNQ1):c.1515-4G>A
NM_000218.3(KCNQ1):c.641G>A (p.Cys214Tyr)
NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr)
NM_000238.4(KCNH2):c.1128+1866G>A
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met) rs539146547
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1900A>C (p.Thr634Pro)
NM_000238.4(KCNH2):c.243G>C (p.Gln81His) rs199472849
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) rs1801029729
NM_000238.4(KCNH2):c.508CTG[4] (p.Leu171_Ala172insLeuLeu) rs1801462189
NM_000238.4(KCNH2):c.56T>C (p.Ile19Thr)
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly) rs748762712
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg) rs372559632
NM_000335.5(SCN5A):c.155C>A (p.Pro52His) rs769229586
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) rs199473618
NM_000335.5(SCN5A):c.5588A>G (p.Glu1863Gly) rs2125825258
NM_000719.7(CACNA1C):c.1237G>A (p.Glu413Lys)
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.2530+4C>T rs2153232586
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=) rs764298283
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg)
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg) rs761966966
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)
NM_000719.7(CACNA1C):c.5609C>A (p.Thr1870Lys) rs201777030
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu) rs869025360
NM_001305624.1(CALM2):c.8G>A (p.Arg3His)
NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp) rs1263587542
NM_174934.4(SCN4B):c.377C>T (p.Thr126Met)

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