ClinVar Miner

List of variants reported as pathogenic for Bone marrow failure syndrome 3

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) rs150576702 0.00003
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012339.3(DNAJC21):c.1224dup (p.Gly409fs) rs765411726
NM_001012339.3(DNAJC21):c.148C>T (p.Gln50Ter)
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) rs1561183139
NM_001012339.3(DNAJC21):c.643_644delinsTTT (p.Lys215fs)
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs) rs1580526958
NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter)
NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter) rs770282904
NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala) rs879253818
NM_001012339.3(DNAJC21):c.982del (p.Ala328fs) rs1580531090
NM_001012339.3(DNAJC21):c.983+1G>T rs368148362

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