ClinVar Miner

List of variants reported as likely benign for T-B- severe combined immunodeficiency by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_000022.4(ADA):c.110C>T (p.Ala37Val) rs151336936
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.525G>A (p.Gln175=) rs769506264
NM_000022.4(ADA):c.639C>T (p.Val213=) rs575603724
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.663C>T (p.Ala221=) rs553639716
NM_000022.4(ADA):c.679-6C>T rs375562913
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896
NM_000448.2(RAG1):c.2715C>T (p.Cys905=) rs138119069
NM_000448.2(RAG1):c.2799A>G (p.Gly933=) rs769375583
NM_000448.2(RAG1):c.3016A>G (p.Met1006Val) rs139113046
NM_000448.2(RAG1):c.60C>T (p.His20=) rs138801620
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.4(RAG2):c.899G>A (p.Arg300His) rs138857320
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1379_1381AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101
NM_001033855.3(DCLRE1C):c.30G>A (p.Glu10=) rs768356794
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=) rs143042511
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=) rs747818099
NM_001625.3(AK2):c.220-5delT rs752085550
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419
NM_001625.4(AK2):c.504C>T (p.Thr168=) rs61750964
NM_001625.4(AK2):c.603C>T (p.Tyr201=) rs138151595
NM_001625.4(AK2):c.630C>T (p.Ile210=) rs746330303
NM_005356.5(LCK):c.1195+4C>T rs142706318
NM_005356.5(LCK):c.1497G>A (p.Thr499=) rs375587756
NM_005356.5(LCK):c.84C>T (p.Val28=) rs144437329
NM_006904.6(PRKDC):c.11754C>T (p.Leu3918=) rs774251901
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.12216T>A (p.Pro4072=) rs570143368
NM_006904.6(PRKDC):c.129C>T (p.Val43=) rs373856605
NM_006904.6(PRKDC):c.1389G>A (p.Lys463=) rs772883495
NM_006904.6(PRKDC):c.1818A>G (p.Ser606=) rs368804788
NM_006904.6(PRKDC):c.1896G>A (p.Glu632=) rs774814292
NM_006904.6(PRKDC):c.2220C>T (p.Ile740=) rs191477681
NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) rs201231274
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.4594C>T (p.Leu1532Phe) rs56387546
NM_006904.6(PRKDC):c.4936C>T (p.Leu1646=) rs1554638426
NM_006904.6(PRKDC):c.4962+8A>G rs767290425
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5253A>G (p.Glu1751=) rs8178120
NM_006904.6(PRKDC):c.5466C>T (p.Arg1822=) rs1418857770
NM_006904.6(PRKDC):c.5750+7T>C rs1231868709
NM_006904.6(PRKDC):c.5760C>T (p.Tyr1920=) rs188014107
NM_006904.6(PRKDC):c.6342A>G (p.Glu2114=) rs201300612
NM_006904.6(PRKDC):c.6348T>C (p.Asp2116=) rs200510022
NM_006904.6(PRKDC):c.7405T>C (p.Cys2469Arg) rs147514951
NM_006904.6(PRKDC):c.7647G>A (p.Lys2549=) rs4425755
NM_006904.6(PRKDC):c.7761+10T>C rs1481895843
NM_006904.6(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.6(PRKDC):c.8229T>C (p.Tyr2743=) rs562024708
NM_006904.6(PRKDC):c.871G>A (p.Val291Met) rs372117480
NM_006904.6(PRKDC):c.9693C>A (p.Ile3231=) rs759916434
NM_006904.6(PRKDC):c.9810C>T (p.Asp3270=) rs1361121924

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