List of variants in gene C8B reported as pathogenic for immune system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.27G>A (p.Trp9Ter)	rs759074976	0.00006
NM_000066.4(C8B):c.820C>T (p.Arg274Ter)	rs140813121	0.00006
NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs)	rs398122868
NM_000066.4(C8B):c.336del (p.Asn113fs)	rs372968576
NM_000066.4(C8B):c.348C>A (p.Cys116Ter)	rs753002884
NM_000066.4(C8B):c.361C>T (p.Arg121Ter)	rs150022116
NM_000066.4(C8B):c.605del (p.Pro202fs)	rs398122867

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