ClinVar Miner

List of variants in gene C8B reported as pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000066.4(C8B):c.1441del (p.Tyr481fs) rs752754320 0.00011
NM_000066.4(C8B):c.27G>A (p.Trp9Ter) rs759074976 0.00006
NM_000066.4(C8B):c.820C>T (p.Arg274Ter) rs140813121 0.00006
NM_000066.4(C8B):c.739A>T (p.Lys247Ter) rs529668782 0.00002
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter) rs1176902020 0.00001
NC_000001.10:g.(?_57417701)_(57417873_?)del
NM_000066.4(C8B):c.1093dup (p.Met365fs)
NM_000066.4(C8B):c.1115_1116del (p.Leu372fs)
NM_000066.4(C8B):c.1142dup (p.Asn381fs)
NM_000066.4(C8B):c.1351G>T (p.Glu451Ter) rs2101385559
NM_000066.4(C8B):c.1355G>A (p.Trp452Ter) rs200077558
NM_000066.4(C8B):c.138del (p.Phe47fs)
NM_000066.4(C8B):c.149_153del (p.Ser50fs)
NM_000066.4(C8B):c.197del (p.Glu66fs)
NM_000066.4(C8B):c.210G>A (p.Trp70Ter)
NM_000066.4(C8B):c.336del (p.Asn113fs) rs372968576
NM_000066.4(C8B):c.33_34del (p.Pro12fs)
NM_000066.4(C8B):c.355C>T (p.Gln119Ter) rs760669928
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000066.4(C8B):c.477T>G (p.Tyr159Ter)
NM_000066.4(C8B):c.478A>T (p.Lys160Ter)
NM_000066.4(C8B):c.493G>T (p.Glu165Ter)
NM_000066.4(C8B):c.53del (p.Leu18fs) rs1645249331
NM_000066.4(C8B):c.550_553del (p.Asn184fs) rs1464732473
NM_000066.4(C8B):c.667del (p.Thr223fs)
NM_000066.4(C8B):c.71_74del (p.Cys24fs)
NM_000066.4(C8B):c.742del (p.Met248fs)
NM_000066.4(C8B):c.793G>T (p.Glu265Ter) rs1175509707
NM_000066.4(C8B):c.850C>T (p.Arg284Ter)
NM_000066.4(C8B):c.934dup (p.Met312fs) rs2101408848
NM_000066.4(C8B):c.935dup (p.Met312fs)

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