ClinVar Miner

List of variants in gene HMBS reported as likely pathogenic for acute hepatic porphyria

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795

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