List of variants in gene RBCK1 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_031229.4(RBCK1):c.1160A>G (p.Asn387Ser)	rs566912235	0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)	rs730880330	0.00001
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs)	rs2122349615
NM_031229.4(RBCK1):c.461-2A>G	rs2016220601
NM_031229.4(RBCK1):c.582+1G>A	rs1017046170
NM_031229.4(RBCK1):c.683_705del (p.Ala228fs)
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)	rs2122268166

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