ClinVar Miner

List of variants in gene DNMT1 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
ClinVar version:
Total variants: 44
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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.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370 0.00035
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) rs142562681 0.00010
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=) rs139909192 0.00010
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) rs377704053 0.00007
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) rs781301028 0.00006
NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) rs758190156 0.00006
NM_001130823.3(DNMT1):c.3157G>A (p.Ala1053Thr) rs370786558 0.00004
NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) rs755151805 0.00003
NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) rs766504703 0.00003
NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) rs767308840 0.00002
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990 0.00002
NM_001130823.3(DNMT1):c.3394+4C>T rs781376510 0.00002
NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) rs1186008456 0.00002
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=) rs747144567 0.00002
NM_001130823.3(DNMT1):c.1008G>A (p.Lys336=) rs750048459 0.00001
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) rs766051225 0.00001
NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) rs759143980 0.00001
NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) rs1372902099 0.00001
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.2718C>G (p.Phe906Leu) rs1057518774
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.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln) rs2145258691
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001130823.3(DNMT1):c.616G>A (p.Asp206Asn)
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130
NM_001130823.3(DNMT1):c.859C>G (p.Gln287Glu) rs2145340495
NM_001130823.3(DNMT1):c.910A>C (p.Ser304Arg) rs1599376406

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