ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634 0.00001
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) rs2134859037
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) rs1946187914
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) rs143984293
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.815del (p.Lys272fs)
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795

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