ClinVar Miner

List of variants in gene DNMT1 reported by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) rs75616428 0.00240
NM_001130823.3(DNMT1):c.493+8C>T rs138998574 0.00107
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) rs148831705 0.00008
NM_001130823.3(DNMT1):c.3184G>A (p.Asp1062Asn) rs548883904 0.00001
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001130823.3(DNMT1):c.1044-9_1044-8del rs59599980

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