ClinVar Miner

List of variants in gene HPD, LOC130009013 studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.*191C>T rs886049036 0.00038
NM_002150.3(HPD):c.*65A>G rs931600760 0.00007
NM_002150.2(HPD):c.*202T>A rs1352129485 0.00002
NM_002150.3(HPD):c.*190G>T rs942325148
NM_002150.3(HPD):c.*69C>T rs1592913492
NM_002150.3(HPD):c.*82T>C rs879205776

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