ClinVar Miner

List of variants in gene DPAGT1, HMBS studied for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000011.10:g.119096839C>T rs74992671
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_001382.3(DPAGT1):c.*184G>A rs8551
NM_001382.3(DPAGT1):c.*265A>G rs28990974
NM_001382.3(DPAGT1):c.*417T>C rs7759
NM_001382.3(DPAGT1):c.*427T>G rs28990975
NM_001382.3(DPAGT1):c.1177A>G (p.Ile393Val) rs643788
NM_001382.3(DPAGT1):c.994T>G (p.Phe332Val) rs138544311

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