ClinVar Miner

List of variants in gene KCNC3 studied for Inborn genetic diseases

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447 0.00331
NM_004977.3(KCNC3):c.1742C>T (p.Pro581Leu) rs770114451 0.00002
NM_004977.3(KCNC3):c.1250G>A (p.Arg417His)
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004977.3(KCNC3):c.1294G>A (p.Val432Met)
NM_004977.3(KCNC3):c.152C>T (p.Ser51Phe)
NM_004977.3(KCNC3):c.154C>G (p.Pro52Ala)
NM_004977.3(KCNC3):c.1630A>C (p.Met544Leu)
NM_004977.3(KCNC3):c.167C>G (p.Pro56Arg)
NM_004977.3(KCNC3):c.1694G>A (p.Arg565Gln)
NM_004977.3(KCNC3):c.170C>G (p.Ala57Gly)
NM_004977.3(KCNC3):c.1750C>T (p.Pro584Ser)
NM_004977.3(KCNC3):c.1751C>T (p.Pro584Leu)
NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg) rs368232448
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
NM_004977.3(KCNC3):c.1985G>A (p.Arg662His)
NM_004977.3(KCNC3):c.200A>C (p.Glu67Ala)
NM_004977.3(KCNC3):c.2017G>A (p.Ala673Thr)
NM_004977.3(KCNC3):c.2021A>G (p.His674Arg)
NM_004977.3(KCNC3):c.2032C>G (p.Pro678Ala)
NM_004977.3(KCNC3):c.2137T>C (p.Tyr713His)
NM_004977.3(KCNC3):c.2215G>A (p.Gly739Ser)
NM_004977.3(KCNC3):c.227C>G (p.Ala76Gly)
NM_004977.3(KCNC3):c.397G>A (p.Asp133Asn)
NM_004977.3(KCNC3):c.602C>G (p.Ser201Cys)
NM_004977.3(KCNC3):c.606C>G (p.Phe202Leu)
NM_004977.3(KCNC3):c.625_633del (p.Gly209_Ala211del)
NM_004977.3(KCNC3):c.665G>C (p.Gly222Ala)
NM_004977.3(KCNC3):c.700G>T (p.Gly234Cys) rs912072477
NM_004977.3(KCNC3):c.722A>C (p.Glu241Ala)

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