ClinVar Miner

List of variants studied for bone marrow failure syndrome 3 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) rs1561180439
NM_001012339.3(DNAJC21):c.517C>T (p.Arg173Ter) rs150576702
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter) rs1561183139
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.983+1G>T rs368148362

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