ClinVar Miner

List of variants in gene KCNQ3 studied for Inborn genetic diseases

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Gene type:
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Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303 0.00131
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910 0.00034
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_004519.4(KCNQ3):c.225C>G (p.Asp75Glu) rs138254004 0.00029
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433 0.00020
NM_004519.4(KCNQ3):c.1964C>T (p.Thr655Met) rs199942237 0.00019
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_004519.4(KCNQ3):c.2499C>T (p.Leu833=) rs773301064 0.00011
NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg) rs112314858 0.00007
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) rs138852641 0.00007
NM_004519.4(KCNQ3):c.1656C>T (p.Ala552=) rs199722269 0.00006
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp) rs185628977 0.00006
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667 0.00006
NM_004519.4(KCNQ3):c.1590T>C (p.Tyr530=) rs757378151 0.00005
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368 0.00004
NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=) rs143511163 0.00004
NM_004519.4(KCNQ3):c.1677C>A (p.Ser559=) rs377613824 0.00004
NM_004519.4(KCNQ3):c.2505G>C (p.Glu835Asp) rs748320350 0.00004
NM_004519.4(KCNQ3):c.616C>T (p.Leu206=) rs770952684 0.00004
NM_004519.4(KCNQ3):c.1617G>A (p.Arg539=) rs140607300 0.00003
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622 0.00002
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_004519.4(KCNQ3):c.1443C>T (p.Tyr481=) rs200812594 0.00002
NM_004519.4(KCNQ3):c.1471G>A (p.Gly491Arg) rs201552546 0.00002
NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser) rs747379988 0.00002
NM_004519.4(KCNQ3):c.2078C>T (p.Pro693Leu) rs755177673 0.00002
NM_004519.4(KCNQ3):c.2128T>C (p.Tyr710His) rs181746838 0.00002
NM_004519.4(KCNQ3):c.1020C>T (p.Gly340=) rs1490473853 0.00001
NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg) rs370333805 0.00001
NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr) rs199999939 0.00001
NM_004519.4(KCNQ3):c.1775C>G (p.Thr592Ser) rs556421495 0.00001
NM_004519.4(KCNQ3):c.1938C>T (p.His646=) rs759859458 0.00001
NM_004519.4(KCNQ3):c.2506G>A (p.Gly836Ser) rs1245552106 0.00001
NM_004519.4(KCNQ3):c.2562G>A (p.Ser854=) rs201736771 0.00001
NM_004519.4(KCNQ3):c.387-3T>C rs199639193 0.00001
NM_004519.4(KCNQ3):c.42C>T (p.Gly14=) rs1395792790 0.00001
NM_004519.4(KCNQ3):c.73G>A (p.Ala25Thr) rs1280461599 0.00001
NM_004519.4(KCNQ3):c.789G>A (p.Thr263=) rs762086066 0.00001
NM_004519.4(KCNQ3):c.978G>A (p.Thr326=) rs751628183 0.00001
NM_004519.4(KCNQ3):c.98C>T (p.Ala33Val) rs761196042 0.00001
NM_004519.4(KCNQ3):c.107C>T (p.Ala36Val)
NM_004519.4(KCNQ3):c.1158T>C (p.Tyr386=)
NM_004519.4(KCNQ3):c.1577A>G (p.Gln526Arg)
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) rs1825159081
NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr) rs74582884
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1822C>G (p.Pro608Ala)
NM_004519.4(KCNQ3):c.1884+3A>G
NM_004519.4(KCNQ3):c.1885G>A (p.Val629Ile) rs185511111
NM_004519.4(KCNQ3):c.1885G>T (p.Val629Phe) rs185511111
NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) rs1227129126
NM_004519.4(KCNQ3):c.1946G>A (p.Arg649Gln)
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.4(KCNQ3):c.1970A>G (p.Tyr657Cys)
NM_004519.4(KCNQ3):c.2004A>C (p.Glu668Asp)
NM_004519.4(KCNQ3):c.2016GGA[1] (p.Glu673del) rs1824808776
NM_004519.4(KCNQ3):c.2023A>G (p.Asn675Asp)
NM_004519.4(KCNQ3):c.2035G>A (p.Asp679Asn) rs773672399
NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)
NM_004519.4(KCNQ3):c.2093G>A (p.Ser698Asn) rs1824804011
NM_004519.4(KCNQ3):c.2239G>T (p.Val747Phe) rs1563761711
NM_004519.4(KCNQ3):c.2290G>C (p.Ala764Pro)
NM_004519.4(KCNQ3):c.233A>T (p.Gln78Leu)
NM_004519.4(KCNQ3):c.2356A>G (p.Ser786Gly)
NM_004519.4(KCNQ3):c.2381C>T (p.Ser794Leu) rs267601778
NM_004519.4(KCNQ3):c.2392G>A (p.Glu798Lys)
NM_004519.4(KCNQ3):c.2440GAT[3] (p.Asp815_Tyr816insAsp)
NM_004519.4(KCNQ3):c.2463T>C (p.Asn821=)
NM_004519.4(KCNQ3):c.2514G>C (p.Thr838=) rs568466967
NM_004519.4(KCNQ3):c.2607T>G (p.Asn869Lys)
NM_004519.4(KCNQ3):c.353C>G (p.Pro118Arg)
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.38GCG[6] (p.Gly15_Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.483A>T (p.Thr161=)
NM_004519.4(KCNQ3):c.530C>A (p.Ala177Asp) rs2130176444
NM_004519.4(KCNQ3):c.547C>T (p.Arg183Ter)
NM_004519.4(KCNQ3):c.569G>A (p.Arg190Gln) rs796052674
NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) rs774616642
NM_004519.4(KCNQ3):c.59G>A (p.Gly20Asp)
NM_004519.4(KCNQ3):c.609C>T (p.Ile203=) rs574174380
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.77C>T (p.Ala26Val)
NM_004519.4(KCNQ3):c.889A>G (p.Lys297Glu) rs1826518706
NM_004519.4(KCNQ3):c.959G>A (p.Gly320Glu) rs1563787894
NM_004519.4(KCNQ3):c.98C>G (p.Ala33Gly) rs761196042

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