ClinVar Miner

List of variants in gene DNAJC12 reported as pathogenic for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_021800.3(DNAJC12):c.158-2A>T rs775029664
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
NM_021800.3(DNAJC12):c.298-968_503-2603del
NM_021800.3(DNAJC12):c.309G>T (p.Trp103Cys)
NM_021800.3(DNAJC12):c.502+1G>C
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)
NM_021800.3(DNAJC12):c.58_59del (p.Gly20fs) rs1589052989
NM_021800.3(DNAJC12):c.596G>T (p.Ter199Leu) rs1273776043
NM_021800.3(DNAJC12):c.79-2A>G rs1277990552
NM_021800.3(DNAJC12):c.85del (p.Gln29fs) rs770562664

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