ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 54
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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.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) rs1555206402
NM_000190.4(HMBS):c.160+5G>C rs1592213590
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) rs1057518886
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.613-1G>A rs771206317
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) rs1555206128
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.912+1G>C
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779

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