ClinVar Miner

List of variants in gene DNMT3B reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) rs121908943 0.00001
NM_006892.4(DNMT3B):c.1957G>A (p.Asp653Asn) rs1438362757 0.00001
NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln) rs767814649 0.00001
NM_006892.4(DNMT3B):c.2421-11G>A rs547940069 0.00001
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) rs121908946 0.00001
NM_006892.4(DNMT3B):c.1996+2T>A
NM_006892.4(DNMT3B):c.2009G>A (p.Arg670Gln)
NM_006892.4(DNMT3B):c.2146-1G>C
NM_006892.4(DNMT3B):c.2296G>C (p.Ala766Pro)
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
NM_006892.4(DNMT3B):c.433-2A>G
NM_006892.4(DNMT3B):c.654+1G>C

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