ClinVar Miner

List of variants in gene DNMT3B reported as pathogenic

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly) rs121908941 0.00002
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.2072C>T (p.Pro691Leu) rs889145646 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
DNMT3B, 1-BP INS, CODON 53
DNMT3B, EX21-22DEL
DNMT3B, LEU656THR
NM_006892.4(DNMT3B):c.1453C>T (p.Arg485Ter)
NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter) rs1978602545
NM_006892.4(DNMT3B):c.1466_1488del (p.Leu489fs)
NM_006892.4(DNMT3B):c.160C>T (p.Arg54Ter)
NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala)
NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala) rs1568857280
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) rs121908942
NM_006892.4(DNMT3B):c.2044_2047del (p.Ser682fs)
NM_006892.4(DNMT3B):c.2197C>T (p.Arg733Ter)
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) rs121908944
NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter) rs2146082310
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) rs759448571
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.691G>T (p.Gly231Ter) rs2145960216
NM_006892.4(DNMT3B):c.754C>T (p.Arg252Ter)
NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter) rs1979652729
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) rs121908947
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) rs121908945
NM_006892.4(DNMT3B):c.996del (p.Met332fs) rs2145982663

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