ClinVar Miner

List of variants in gene DNMT3B reported as pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
DNMT3B, 1-BP INS, CODON 53
DNMT3B, EX21-22DEL
DNMT3B, LEU656THR
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) rs121908942
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly)
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) rs121908944
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) rs121908939
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) rs121908940
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) rs121908947
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) rs121908945

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