ClinVar Miner

List of variants in gene GMPPA reported as pathogenic for adrenal gland disease

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
GMPPA, TRP214TER
NM_013335.3(GMPPA):c.1000A>C (p.Thr334Pro) rs397518461
NM_013335.3(GMPPA):c.210del (p.Ala71Profs) rs886037654
NM_013335.3(GMPPA):c.295C>T (p.Arg99Ter) rs397518460
NM_013335.3(GMPPA):c.545G>A (p.Gly182Asp) rs397518462
NM_013335.3(GMPPA):c.853+1G>A rs1553624347

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