List of variants in gene DNAJC21 reported as pathogenic for bone marrow disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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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.544C>T (p.Arg182Ter)	rs771063992	0.00003
NM_001012339.3(DNAJC21):c.983+1G>A	rs368148362	0.00002
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)	rs2112024354
NM_001012339.3(DNAJC21):c.381delinsCTAGTGT (p.Leu127delinsPheTer)
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter)	rs1561183139
NM_001012339.3(DNAJC21):c.643_644delinsTTT (p.Lys215fs)	rs2112039335
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs)	rs1580526958
NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter)	rs556917839
NM_001012339.3(DNAJC21):c.793G>T (p.Glu265Ter)	rs770282904
NM_001012339.3(DNAJC21):c.982del (p.Ala328fs)	rs1580531090
NM_001012339.3(DNAJC21):c.983+1G>T	rs368148362

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