ClinVar Miner

List of variants in gene DNMT1 reported as likely benign for Inborn genetic diseases

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431 0.00039
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) rs62621087 0.00038
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970 0.00024
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 0.00023
NM_001130823.3(DNMT1):c.4293+5T>C rs199506146 0.00021
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp) rs369196079 0.00014
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098 0.00011
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502 0.00011
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044 0.00011
NM_001130823.3(DNMT1):c.2315C>A (p.Thr772Asn) rs142562681 0.00010
NM_001130823.3(DNMT1):c.2728G>T (p.Val910Leu) rs150863675 0.00010
NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu) rs370592431 0.00009
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464 0.00009
NM_001130823.3(DNMT1):c.3523+6C>T rs372240993 0.00009
NM_001130823.3(DNMT1):c.357A>C (p.Arg119Ser) rs373923585 0.00009
NM_001130823.3(DNMT1):c.1534G>T (p.Ala512Ser) rs753794138 0.00007
NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) rs146467216 0.00007
NM_001130823.3(DNMT1):c.734C>T (p.Thr245Met) rs143598088 0.00007
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_001130823.3(DNMT1):c.4444C>T (p.Arg1482Cys) rs147984942 0.00006
NM_001130823.3(DNMT1):c.1678C>T (p.Arg560Cys) rs375474222 0.00005
NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) rs148987580 0.00005
NM_001130823.3(DNMT1):c.1833-5C>T rs757443945 0.00004
NM_001130823.3(DNMT1):c.3196G>A (p.Val1066Met) rs187394074 0.00004
NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) rs201025441 0.00004
NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) rs775139340 0.00002
NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) rs201945078 0.00001
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628 0.00001
NM_001130823.3(DNMT1):c.4001C>T (p.Ala1334Val) rs766051225 0.00001
NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) rs375225009 0.00001
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) rs1020363356 0.00001
NM_001130823.3(DNMT1):c.803C>T (p.Pro268Leu) rs779634956 0.00001
NM_001130823.3(DNMT1):c.2623G>T (p.Asp875Tyr)
NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) rs146601335
NM_001130823.3(DNMT1):c.3949-9dup rs780030001
NM_001130823.3(DNMT1):c.410C>G (p.Thr137Arg) rs377146699
NM_001130823.3(DNMT1):c.439G>A (p.Ala147Thr)

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