ClinVar Miner

List of variants in gene KCNC2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_139137.4(KCNC2):c.1769G>C (p.Gly590Ala) rs151248231 0.00030
NM_139137.4(KCNC2):c.283C>A (p.His95Asn) rs200309151 0.00028
NM_139137.4(KCNC2):c.586G>A (p.Ala196Thr) rs201721348 0.00007
NM_139137.4(KCNC2):c.*764C>T rs202018171 0.00005
NM_139137.4(KCNC2):c.1598T>A (p.Leu533Gln) rs923590869 0.00004
NM_139137.4(KCNC2):c.524T>C (p.Ile175Thr) rs200315364 0.00004
NM_139137.4(KCNC2):c.247G>A (p.Gly83Ser) rs554496008 0.00003
NM_139137.4(KCNC2):c.1592G>A (p.Arg531Gln) rs201668041 0.00002
NM_139137.4(KCNC2):c.*731A>T rs201339164 0.00001
NM_139137.4(KCNC2):c.1526G>T (p.Cys509Phe) rs1176921109 0.00001
NM_139137.4(KCNC2):c.572G>A (p.Gly191Asp) rs1199794631 0.00001
NM_139137.4(KCNC2):c.722T>C (p.Val241Ala) rs376587134 0.00001
NM_139137.4(KCNC2):c.779A>G (p.Lys260Arg) rs371846580 0.00001
NM_139137.4(KCNC2):c.1546G>T (p.Ala516Ser)
NM_139137.4(KCNC2):c.1567G>C (p.Asp523His) rs2547843073
NM_139137.4(KCNC2):c.1580G>T (p.Gly527Val) rs1881044098
NM_139137.4(KCNC2):c.1635T>A (p.Ser545Arg) rs749078233
NM_139137.4(KCNC2):c.1635T>G (p.Ser545Arg) rs749078233
NM_139137.4(KCNC2):c.1672C>G (p.Leu558Val)
NM_139137.4(KCNC2):c.1685G>A (p.Arg562His)
NM_139137.4(KCNC2):c.1685G>T (p.Arg562Leu) rs372341671
NM_139137.4(KCNC2):c.1701C>G (p.Asp567Glu)
NM_139137.4(KCNC2):c.170C>T (p.Ser57Leu) rs766911910
NM_139137.4(KCNC2):c.1747T>G (p.Tyr583Asp)
NM_139137.4(KCNC2):c.1751C>T (p.Thr584Met)
NM_139137.4(KCNC2):c.1840C>G (p.Leu614Val)
NM_139137.4(KCNC2):c.209T>A (p.Leu70Gln)
NM_139137.4(KCNC2):c.24G>C (p.Glu8Asp) rs1311113011
NM_139137.4(KCNC2):c.265G>A (p.Gly89Ser) rs779052985
NM_139137.4(KCNC2):c.279C>A (p.Ser93Arg)
NM_139137.4(KCNC2):c.299G>A (p.Arg100His)
NM_139137.4(KCNC2):c.328G>T (p.Val110Phe)
NM_139137.4(KCNC2):c.430G>A (p.Asp144Asn) rs758585293
NM_139137.4(KCNC2):c.559G>A (p.Ala187Thr)
NM_139137.4(KCNC2):c.596G>C (p.Gly199Ala)
NM_139137.4(KCNC2):c.635A>G (p.Gln212Arg)
NM_139137.4(KCNC2):c.68G>T (p.Arg23Leu)
NM_139137.4(KCNC2):c.833C>T (p.Thr278Met)
NM_139137.4(KCNC2):c.940C>A (p.Leu314Ile)

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