ClinVar Miner

List of variants reported as benign for immune system disorder by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val) rs3194051 0.28365
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile) rs6897932 0.21045
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_002185.5(IL7R):c.495C>T (p.His165=) rs2228141 0.13289
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys) rs2071587 0.07832
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) rs61749867 0.03097
NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) rs3212723 0.02676
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00869
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_000448.3(RAG1):c.251A>G (p.His84Arg) rs150199231 0.00550
NM_002185.5(IL7R):c.1241C>T (p.Thr414Met) rs2229232 0.00456
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_001369369.1(FOXN1):c.1556T>A (p.Leu519Gln) rs34814444 0.00197
NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr) rs144968714 0.00150
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) rs34841221 0.00130
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000448.3(RAG1):c.1573C>T (p.Pro525Ser) rs4151032 0.00017
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205 0.00006
NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys) rs200075643 0.00002
NM_002185.5(IL7R):c.1043A>C (p.Asn348Thr) rs41270321
NM_002185.5(IL7R):c.1092T>G (p.Asp364Glu) rs201216012

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