ClinVar Miner

List of variants reported as likely 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: 45
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala) rs115316501 0.00398
NM_002185.5(IL7R):c.132C>T (p.Ser44=) rs11567704 0.00357
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) rs150721661 0.00334
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp) rs144301161 0.00210
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824 0.00144
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_001369369.1(FOXN1):c.1757G>A (p.Cys586Tyr) rs73278523 0.00128
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp) rs11567735 0.00125
NM_002185.5(IL7R):c.1020T>G (p.Leu340=) rs138731184 0.00096
NM_001369369.1(FOXN1):c.930A>G (p.Thr310=) rs143844274 0.00089
NM_000215.4(JAK3):c.2636A>G (p.His879Arg) rs3179893 0.00086
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396 0.00063
NM_001369369.1(FOXN1):c.1135+20G>A rs377224791 0.00060
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00056
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695 0.00051
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943 0.00050
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu) rs138482569 0.00047
NM_000215.4(JAK3):c.187A>G (p.Ile63Val) rs144405201 0.00026
NM_001369369.1(FOXN1):c.114C>T (p.Ala38=) rs375724174 0.00022
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys) rs145810271 0.00017
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met) rs368962978 0.00016
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn) rs150051812 0.00012
NM_000215.4(JAK3):c.649G>A (p.Val217Met) rs202167678 0.00011
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_001369369.1(FOXN1):c.1664C>T (p.Ala555Val) rs187814037 0.00009
NM_000215.4(JAK3):c.362G>A (p.Arg121His) rs143586866 0.00008
NM_001369369.1(FOXN1):c.713G>A (p.Gly238Asp) rs188424977 0.00008
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) rs778229878 0.00005
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu) rs753042511 0.00004
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) rs149225004 0.00004
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln) rs528699445 0.00003
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg) rs771221019 0.00002
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) rs181901993 0.00002
NM_000206.3(IL2RG):c.311A>T (p.His104Leu) rs770804846 0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp) rs758080286 0.00001
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn) rs779190567 0.00001
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_001369369.1(FOXN1):c.362C>T (p.Ala121Val) rs557541901

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