List of variants in gene C9 reported as likely 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001737.5(C9):c.580C>T (p.Arg194Ter)	rs146217095	0.00023
NM_001737.5(C9):c.460C>T (p.Arg154Ter)	rs144138616	0.00005
NM_001737.5(C9):c.577del (p.Tyr193fs)	rs778518669	0.00001
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs)	rs1753477155
NM_001737.5(C9):c.1039_1042del (p.Ser347fs)	rs1027370764
NM_001737.5(C9):c.1184_1185del (p.Ser395fs)	rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter)	rs34000044
NM_001737.5(C9):c.184-1G>A

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