ClinVar Miner

List of variants in gene KCNQ4 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_004700.4(KCNQ4):c.708+14G>C rs2361660 0.66283
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=) rs4660468 0.65693
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln) rs34287852 0.16898
NM_004700.4(KCNQ4):c.873G>A (p.Pro291=) rs12117176 0.07614
NM_004700.4(KCNQ4):c.879A>G (p.Thr293=) rs12143503 0.07598
NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=) rs55964611 0.03837
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=) rs55737429 0.03713
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=) rs55925184 0.03211
NM_004700.4(KCNQ4):c.1188C>T (p.Pro396=) rs189541861 0.00222
NM_004700.4(KCNQ4):c.1292+12G>A rs200426006 0.00200
NM_004700.4(KCNQ4):c.1231C>T (p.Arg411Cys) rs199809248 0.00153
NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu) rs139835231 0.00103
NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=) rs191631836 0.00103
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=) rs137896524 0.00085
NM_004700.4(KCNQ4):c.465A>C (p.Gly155=) rs145129529 0.00082
NM_004700.4(KCNQ4):c.1413T>C (p.Gly471=) rs144810195 0.00041
NM_004700.4(KCNQ4):c.946-12C>G rs146802754 0.00041
NM_004700.4(KCNQ4):c.*7T>C rs537008263 0.00035
NM_004700.4(KCNQ4):c.438G>A (p.Glu146=) rs144434662 0.00025
NM_004700.4(KCNQ4):c.1572C>T (p.Asp524=) rs568177070 0.00023
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr) rs142453905 0.00016
NM_004700.4(KCNQ4):c.735G>A (p.Gly245=) rs147751558 0.00016
NM_004700.4(KCNQ4):c.909C>T (p.Phe303=) rs773015201 0.00011
NM_004700.4(KCNQ4):c.1668C>T (p.Tyr556=) rs140945833 0.00010
NM_004700.4(KCNQ4):c.2028C>T (p.Asp676=) rs552843990 0.00009
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1263G>A (p.Pro421=) rs727503105 0.00005
NM_004700.4(KCNQ4):c.315-9T>C rs548061300 0.00005
NM_004700.4(KCNQ4):c.1162C>T (p.Arg388Trp) rs371079509 0.00003
NM_004700.4(KCNQ4):c.1201C>T (p.Arg401Trp) rs754165873 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004700.4(KCNQ4):c.832A>G (p.Thr278Ala) rs763326539 0.00002
NM_004700.4(KCNQ4):c.1179C>T (p.Gly393=) rs1431582898 0.00001
NM_004700.4(KCNQ4):c.1216G>A (p.Asp406Asn) rs1264123218 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.1770G>A (p.Gly590=) rs762279980 0.00001
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg) rs749565877 0.00001
NM_004700.4(KCNQ4):c.386A>G (p.Asn129Ser) rs761034165 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004700.4(KCNQ4):c.1017G>T (p.Arg339Ser) rs769086004
NM_004700.4(KCNQ4):c.1042-11dup rs876657480
NM_004700.4(KCNQ4):c.1051C>T (p.Arg351Cys) rs1167593525
NM_004700.4(KCNQ4):c.1130+13G>T rs1553167606
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1283C>T (p.Pro428Leu) rs932108929
NM_004700.4(KCNQ4):c.1406A>G (p.Gln469Arg) rs1553168273
NM_004700.4(KCNQ4):c.1611C>G (p.Ile537Met) rs876657837
NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) rs1553168601
NM_004700.4(KCNQ4):c.1801G>T (p.Asp601Tyr) rs876657838
NM_004700.4(KCNQ4):c.1954C>G (p.Leu652Val) rs727505133
NM_004700.4(KCNQ4):c.1957G>A (p.Gly653Ser) rs876657839
NM_004700.4(KCNQ4):c.459del (p.Ala154fs) rs727504635
NM_004700.4(KCNQ4):c.699G>C (p.Ala233=) rs727504788
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) rs752131356
NM_004700.4(KCNQ4):c.751T>C (p.Phe251Leu) rs1000705787
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004700.4(KCNQ4):c.834+12T>C rs1031548085
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.857A>G (p.Tyr286Cys) rs876657841

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