ClinVar Miner

List of variants in gene HMBS reported as likely pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318 0.00007
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) rs770086296 0.00004
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00003
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276 0.00001
NC_000011.10:g.(?_119091400)_(119093560_?)del
NM_000190.4(HMBS):c.1028T>C (p.Leu343Pro)
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.161-3C>G
NM_000190.4(HMBS):c.210_210+5delinsT rs1946169082
NM_000190.4(HMBS):c.239A>G (p.Glu80Gly) rs1946174360
NM_000190.4(HMBS):c.292A>G (p.Lys98Glu) rs2134862558
NM_000190.4(HMBS):c.295G>A (p.Asp99Asn) rs2497436869
NM_000190.4(HMBS):c.299T>C (p.Leu100Pro) rs1592215081
NM_000190.4(HMBS):c.500G>C (p.Arg167Pro) rs118204095
NM_000190.4(HMBS):c.541C>T (p.Gln181Ter)
NM_000190.4(HMBS):c.605_612+7del rs2134872053
NM_000190.4(HMBS):c.643G>A (p.Val215Met) rs2134876594
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr) rs767103817
NM_000190.4(HMBS):c.706G>A (p.Gly236Ser) rs1946295991
NM_000190.4(HMBS):c.71G>A (p.Gly24Asp) rs2497421927
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.754G>C (p.Ala252Pro) rs118204113
NM_000190.4(HMBS):c.772-10_772-8del rs764305237
NM_000190.4(HMBS):c.77G>C (p.Arg26Pro) rs118204103
NM_000190.4(HMBS):c.799G>A (p.Val267Met) rs1057521126
NM_000190.4(HMBS):c.839GAG[1] (p.Gly281del)
NM_000190.4(HMBS):c.85del (p.Gln29fs)
NM_000190.4(HMBS):c.866_869del (p.Asp289fs) rs2134883951
NM_000190.4(HMBS):c.87+2_87+4del rs2134854631
NM_000190.4(HMBS):c.913-1G>C rs1946325053
NM_000190.4(HMBS):c.940_941del (p.Gln314fs) rs1407093112

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