ClinVar Miner

List of variants in gene HMBS reported as uncertain significance for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000190.4(HMBS):c.*101G>A rs565181447
NM_000190.4(HMBS):c.*194A>G rs886047756
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) rs199845143
NM_000190.4(HMBS):c.105G>C (p.Thr35=) rs370081222
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.345-9C>T rs772934410
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) rs142459647
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252

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