List of variants in gene DNAJC12 reported as pathogenic for amino acid metabolism disease

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)	rs370032864	0.00022
NM_021800.3(DNAJC12):c.158-2A>T	rs775029664	0.00001
NM_021800.3(DNAJC12):c.79-2A>G	rs1277990552	0.00001
NM_021800.3(DNAJC12):c.85del (p.Gln29fs)	rs770562664	0.00001
NM_021800.3(DNAJC12):c.187A>T (p.Lys63Ter)	rs761235755
NM_021800.3(DNAJC12):c.214C>T (p.Arg72Ter)	rs569240271
NM_021800.3(DNAJC12):c.215G>C (p.Arg72Pro)	rs1035794099
NM_021800.3(DNAJC12):c.298-2A>C	rs1841794857
NM_021800.3(DNAJC12):c.298-968_503-2603del
NM_021800.3(DNAJC12):c.309G>T (p.Trp103Cys)	rs1841794635
NM_021800.3(DNAJC12):c.502+1G>C	rs755829473
NM_021800.3(DNAJC12):c.58_59del (p.Gly20fs)	rs1589052989
NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu)	rs1273776043

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