ClinVar Miner

List of variants in gene KCND3 reported as likely pathogenic for Spinocerebellar ataxia type 19/22

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) rs777183510
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) rs2101997230
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) rs1674966041
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) rs2101995572
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) rs2101995530
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) rs2101995228

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