ClinVar Miner

List of variants studied for recombinase activating gene 2 deficiency by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr) rs146584017 0.00062
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660 0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.25A>G (p.Ser9Gly) rs1851108332 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val) rs1851106893 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser) rs751073669 0.00001
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1332C>G (p.Ile444Met) rs1564995662
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.13A>T (p.Met5Leu) rs1851109238
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.19A>G (p.Thr7Ala) rs1851108814
NM_000536.4(RAG2):c.1A>G (p.Met1Val) rs1564997814
NM_000536.4(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.4(RAG2):c.302A>G (p.Asn101Ser)
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.48G>T (p.Gln16His)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.77G>C (p.Gly26Ala) rs1851105838
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.95G>T (p.Gly32Val)

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