ClinVar Miner

List of variants studied for Jervell and Lange-Nielsen syndrome 1

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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_000218.3(KCNQ1):c.*731G>A rs146324627 0.00335
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00329
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.*391G>A rs774059974 0.00048
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000218.3(KCNQ1):c.-55G>C rs562468879 0.00030
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00026
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000218.3(KCNQ1):c.*266G>A rs113029000 0.00011
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000218.3(KCNQ1):c.*392A>C rs868129989 0.00010
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000218.3(KCNQ1):c.*1055C>T rs375155898 0.00007
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000218.3(KCNQ1):c.*581T>C rs765566577 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.780+12G>A rs200796314 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000218.3(KCNQ1):c.*240C>T rs773743391 0.00004
NM_000218.3(KCNQ1):c.*712G>A rs745447199 0.00004
NM_000218.3(KCNQ1):c.*730C>T rs930321240 0.00004
NM_000218.3(KCNQ1):c.-38C>T rs886048160 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000218.3(KCNQ1):c.*171G>A rs886048168 0.00003
NM_000218.3(KCNQ1):c.*66C>T rs994976684 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000218.3(KCNQ1):c.*290A>G rs765204255 0.00002
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser) rs1280717988 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000218.3(KCNQ1):c.*295G>A rs1296388392 0.00001
NM_000218.3(KCNQ1):c.*47A>C rs754931159 0.00001
NM_000218.3(KCNQ1):c.*633G>A rs886048173 0.00001
NM_000218.3(KCNQ1):c.*652G>A rs886048174 0.00001
NM_000218.3(KCNQ1):c.*806C>T rs539398869 0.00001
NM_000218.3(KCNQ1):c.*81C>T rs771815387 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1794+12C>T rs727505084 0.00001
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
KCNQ1, IVS1
NM_000218.3(KCNQ1):c.*1088G>C rs886048177
NM_000218.3(KCNQ1):c.*125C>T rs1848376672
NM_000218.3(KCNQ1):c.*539G>C rs886048171
NM_000218.3(KCNQ1):c.*632C>T rs568824453
NM_000218.3(KCNQ1):c.*877C>G rs763163556
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu) rs781369724
NM_000218.3(KCNQ1):c.1149dup (p.Ala384fs) rs397508079
NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.3(KCNQ1):c.1189del (p.Arg397fs) rs397508081
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1394-13A>G rs747187696
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.3(KCNQ1):c.1590+13C>A rs1846544314
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs) rs397515637
NM_000218.3(KCNQ1):c.1667_1679del (p.Ile556fs) rs1846691402
NM_000218.3(KCNQ1):c.1686-1G>A rs397508098
NM_000218.3(KCNQ1):c.1686-9T>C rs1846716158
NM_000218.3(KCNQ1):c.1732+5del rs1554920833
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1795-2A>G rs867564993
NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met) rs199472819
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr) rs1280717988
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys) rs1848365419
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.387-12C>T rs1445658296
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) rs1848319199
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.684-15C>G rs752087023
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092
NM_000218.3(KCNQ1):c.743_744delinsTC (p.Trp248Phe) rs397508123
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.921+12A>G rs1848365236

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