ClinVar Miner

List of variants in gene DNMT1 studied for Autosomal dominant cerebellar ataxia, deafness and narcolepsy

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) rs721186 0.99062
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) rs2228611 0.50821
NM_001130823.3(DNMT1):c.1832+14A>G rs2114724 0.50605
NM_001130823.3(DNMT1):c.3394+34T>C rs2290684 0.49102
NM_001130823.3(DNMT1):c.2721-45C>T rs2288349 0.35412
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) rs397509391
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys) rs2089651800
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp) rs745780816
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) rs2089593597
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130

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