ClinVar Miner

List of variants in gene KCNQ1 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 94
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HGVS dbSNP
NM_000218.2(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671
NM_000218.2(KCNQ1):c.1498A>G
NM_000218.2(KCNQ1):c.1591-1G>A
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.1685+2T>G
NM_000218.2(KCNQ1):c.1746T>C
NM_000218.2(KCNQ1):c.181C>A (p.Pro61Thr) rs1273257287
NM_000218.2(KCNQ1):c.1888C>T
NM_000218.2(KCNQ1):c.1923delC
NM_000218.2(KCNQ1):c.192T>C
NM_000218.2(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.2(KCNQ1):c.285C>A
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.347G>A (p.Arg116His) rs727504506
NM_181798.1(KCNQ1):c.-16616T>C rs532941548
NM_181798.1(KCNQ1):c.103G>A (p.Val35Met) rs199472692
NM_181798.1(KCNQ1):c.107del (p.Leu36fs) rs397508112
NM_181798.1(KCNQ1):c.1141G>T (p.Glu381Ter) rs794728530
NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) rs17215500
NM_181798.1(KCNQ1):c.1174C>T (p.Arg392Cys) rs199472787
NM_181798.1(KCNQ1):c.1209+14T>C rs11024034
NM_181798.1(KCNQ1):c.1240G>A (p.Val414Ile) rs199472796
NM_181798.1(KCNQ1):c.1257G>A (p.Ser419=) rs1057128
NM_181798.1(KCNQ1):c.126G>A (p.Thr42=) rs375845797
NM_181798.1(KCNQ1):c.132C>T (p.Tyr44=) rs139042529
NM_181798.1(KCNQ1):c.1345G>A (p.Val449Ile) rs750409379
NM_181798.1(KCNQ1):c.1400G>A (p.Arg467Gln) rs199472815
NM_181798.1(KCNQ1):c.1413+11G>A rs186188610
NM_181798.1(KCNQ1):c.1413+12C>G rs727505084
NM_181798.1(KCNQ1):c.1414-4G>A rs769865006
NM_181798.1(KCNQ1):c.1414-5C>T rs727503104
NM_181798.1(KCNQ1):c.1419G>A (p.Thr473=) rs147091980
NM_181798.1(KCNQ1):c.1450G>A (p.Asp484Asn) rs147445322
NM_181798.1(KCNQ1):c.1479C>T (p.His493=) rs139893266
NM_181798.1(KCNQ1):c.150C>T (p.Ser50=) rs757713526
NM_181798.1(KCNQ1):c.1522G>A (p.Gly508Arg) rs199473484
NM_181798.1(KCNQ1):c.1545C>G (p.Cys515Trp) rs12720454
NM_181798.1(KCNQ1):c.1546G>A (p.Gly516Ser) rs1800172
NM_181798.1(KCNQ1):c.154G>A (p.Gly52Ser) rs199473394
NM_181798.1(KCNQ1):c.1561G>A (p.Val521Ile) rs34150427
NM_181798.1(KCNQ1):c.1605C>G (p.Tyr535Ter) rs11601907
NM_181798.1(KCNQ1):c.1605C>T (p.Tyr535=) rs11601907
NM_181798.1(KCNQ1):c.176G>A (p.Gly59Asp) rs794728568
NM_181798.1(KCNQ1):c.186G>T (p.Gly62=) rs200669271
NM_181798.1(KCNQ1):c.192_196del (p.Arg65fs) rs397508118
NM_181798.1(KCNQ1):c.193C>T (p.Arg65Cys)
NM_181798.1(KCNQ1):c.204del (p.Lys69fs) rs397508120
NM_181798.1(KCNQ1):c.223+12C>T rs370821907
NM_181798.1(KCNQ1):c.224-11G>A rs200828849
NM_181798.1(KCNQ1):c.22del (p.Val8fs) rs794728565
NM_181798.1(KCNQ1):c.232G>A (p.Val78Met) rs151344631
NM_181798.1(KCNQ1):c.238G>A (p.Val80Met) rs75813654
NM_181798.1(KCNQ1):c.267C>A (p.Gly89=) rs146350010
NM_181798.1(KCNQ1):c.293C>T (p.Ser98Leu) rs199473456
NM_181798.1(KCNQ1):c.294G>A (p.Ser98=) rs148566141
NM_181798.1(KCNQ1):c.302+1G>A
NM_181798.1(KCNQ1):c.339C>T (p.His113=) rs28730754
NM_181798.1(KCNQ1):c.400-19TG[2] rs727503103
NM_181798.1(KCNQ1):c.430C>T (p.Leu144=) rs189991547
NM_181798.1(KCNQ1):c.439A>G (p.Ile147Val) rs199472728
NM_181798.1(KCNQ1):c.445del (p.Ser149fs) rs786204778
NM_181798.1(KCNQ1):c.479C>A (p.Ala160Glu) rs199472735
NM_181798.1(KCNQ1):c.487G>A (p.Glu163Lys) rs199473464
NM_181798.1(KCNQ1):c.5+12G>A rs116103203
NM_181798.1(KCNQ1):c.519A>C (p.Ala173=) rs727504769
NM_181798.1(KCNQ1):c.533G>A (p.Trp178Ter) rs120074186
NM_181798.1(KCNQ1):c.54C>T (p.Ile18=) rs1800170
NM_181798.1(KCNQ1):c.567G>C (p.Gly189=) rs727505231
NM_181798.1(KCNQ1):c.651+11C>T rs201144841
NM_181798.1(KCNQ1):c.652-4C>T rs543599445
NM_181798.1(KCNQ1):c.666G>A (p.Ser222=) rs199630316
NM_181798.1(KCNQ1):c.66C>T (p.Ala22=) rs146436765
NM_181798.1(KCNQ1):c.704A>G (p.Lys235Arg) rs12720458
NM_181798.1(KCNQ1):c.715C>T (p.Arg239Trp) rs199473411
NM_181798.1(KCNQ1):c.729G>A (p.Ala243=) rs1805118
NM_181798.1(KCNQ1):c.748-8G>A rs200612600
NM_181798.1(KCNQ1):c.77C>T (p.Thr26Met) rs143709408
NM_181798.1(KCNQ1):c.78G>A (p.Thr26=) rs148121889
NM_181798.1(KCNQ1):c.792C>T (p.Thr264=) rs770808054
NM_181798.1(KCNQ1):c.798G>T (p.Lys266Asn) rs12720457
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181798.1(KCNQ1):c.815C>G (p.Ala272Gly) rs876657836
NM_181798.1(KCNQ1):c.820C>T (p.Arg274Trp) rs766616232
NM_181798.1(KCNQ1):c.821G>A (p.Arg274Gln) rs542628042
NM_181798.1(KCNQ1):c.841C>G (p.Pro281Ala) rs28730756
NM_181798.1(KCNQ1):c.914C>T (p.Thr305Ile) rs751644427
NM_181798.1(KCNQ1):c.96+5G>A rs397508111
NM_181798.1(KCNQ1):c.96+9C>T rs28730664
NM_181798.1(KCNQ1):c.962C>G (p.Pro321Arg) rs12720449
NM_181798.1(KCNQ1):c.97-10G>A rs28730752
NM_181798.1(KCNQ1):c.97-8C>T rs150711844
NM_181798.1(KCNQ1):c.993C>T (p.Val331=) rs778598703

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