ClinVar Miner

List of variants in gene DNMT1 reported as likely pathogenic for Autosomal dominant cerebellar ataxia, deafness and narcolepsy

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718

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