ClinVar Miner

List of variants in gene HMBS reported as likely benign 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
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995
NM_000190.4(HMBS):c.210+5C>A rs79983883
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408
NM_000190.4(HMBS):c.612+4G>A rs745705652
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209

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