ClinVar Miner

List of variants reported as likely pathogenic for Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln) rs369990217 0.00002
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu) rs755059628 0.00001
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser) rs1850828988 0.00001
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430 0.00001
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp) rs200300629 0.00001
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter) rs1434362838 0.00001
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653 0.00001
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396 0.00001
NM_000536.4(RAG2):c.914C>T (p.Pro305Leu) rs756192655 0.00001
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val) rs2133297485
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser) rs1249862287
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.2954A>G (p.Tyr985Cys)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000536.4(RAG2):c.103G>A (p.Gly35Ser) rs2494799990
NM_000536.4(RAG2):c.122G>A (p.Cys41Tyr) rs2494799758
NM_000536.4(RAG2):c.1328T>C (p.Met443Thr) rs1406618487
NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) rs1204766339
NM_000536.4(RAG2):c.1375A>G (p.Met459Val) rs1204766339
NM_000536.4(RAG2):c.217C>G (p.Arg73Gly) rs193922574
NM_000536.4(RAG2):c.284G>A (p.Gly95Glu) rs2494798051
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser) rs1485163794
NM_000536.4(RAG2):c.303T>A (p.Asn101Lys) rs2133315445
NM_000536.4(RAG2):c.418C>T (p.His140Tyr) rs147155709
NM_000536.4(RAG2):c.469G>A (p.Gly157Arg) rs756676209
NM_000536.4(RAG2):c.470G>C (p.Gly157Ala) rs1564997121
NM_000536.4(RAG2):c.476G>A (p.Arg159His) rs2133314621
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.607G>A (p.Gly203Arg)
NM_000536.4(RAG2):c.608G>A (p.Gly203Glu) rs1851081720
NM_000536.4(RAG2):c.653T>A (p.Ile218Asn) rs2494794434
NM_000536.4(RAG2):c.686G>T (p.Arg229Leu) rs121917894
NM_000536.4(RAG2):c.913C>G (p.Pro305Ala) rs370666759
NM_000536.4(RAG2):c.913C>T (p.Pro305Ser)
NM_000536.4(RAG2):c.950G>T (p.Trp317Leu)
NM_000536.4(RAG2):c.954del (p.Phe318fs) rs2133312873
NM_000536.4(RAG2):c.95G>T (p.Gly32Val) rs1224542443

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