ClinVar Miner

List of variants reported as likely pathogenic for Severe combined immunodeficiency disease

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Total variants: 17
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HGVS dbSNP
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.3(JAK3):c.1767C>T (p.Gly589=) rs193922362
NM_000215.3(JAK3):c.2143G>A (p.Val715Ile) rs1057520020
NM_000215.3(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.3(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) rs193922462
NM_000448.2(RAG1):c.322C>T (p.Arg108Ter) rs193922464
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn)
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645

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