ClinVar Miner

List of variants reported as uncertain significance for T-B+ severe combined immunodeficiency by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP
NC_000016.9:g.(?_30078199)_(30199917_?)dup
NC_000016.9:g.(?_30078199)_(30200305_?)dup
NM_000206.2(IL2RG):c.-105C>T rs1396169268
NM_000206.2(IL2RG):c.1094T>C (p.Leu365Pro)
NM_000206.2(IL2RG):c.215G>T (p.Cys72Phe) rs1556330960
NM_000206.2(IL2RG):c.406C>T (p.Arg136Trp) rs758080286
NM_000206.2(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)
NM_000206.2(IL2RG):c.433A>G (p.Met145Val)
NM_000206.2(IL2RG):c.461C>A (p.Pro154His)
NM_000206.2(IL2RG):c.580G>T (p.Asp194Tyr) rs1569479981
NM_000206.2(IL2RG):c.597A>C (p.Glu199Asp)
NM_000206.2(IL2RG):c.675C>G (p.Ser225Arg) rs1569479913
NM_000206.2(IL2RG):c.821T>C (p.Ile274Thr) rs370677485
NM_000215.3(JAK3):c.1030C>A (p.Leu344Ile)
NM_000215.3(JAK3):c.1073T>G (p.Phe358Cys)
NM_000215.3(JAK3):c.1080C>T (p.Cys360=)
NM_000215.3(JAK3):c.1142C>A (p.Thr381Asn) rs373046546
NM_000215.3(JAK3):c.119G>A (p.Arg40His) rs56384680
NM_000215.3(JAK3):c.141C>G (p.Asp47Glu)
NM_000215.3(JAK3):c.1471G>C (p.Gly491Arg) rs200112185
NM_000215.3(JAK3):c.1622A>T (p.His541Leu)
NM_000215.3(JAK3):c.1631T>C (p.Val544Ala)
NM_000215.3(JAK3):c.1678G>A (p.Ala560Thr)
NM_000215.3(JAK3):c.1933C>T (p.His645Tyr) rs201479407
NM_000215.3(JAK3):c.1969C>T (p.Arg657Trp) rs1568403015
NM_000215.3(JAK3):c.1991C>T (p.Pro664Leu)
NM_000215.3(JAK3):c.2089C>T (p.Arg697Trp)
NM_000215.3(JAK3):c.2095G>T (p.Ala699Ser)
NM_000215.3(JAK3):c.2105T>C (p.Leu702Pro)
NM_000215.3(JAK3):c.2316C>A (p.Ala772=)
NM_000215.3(JAK3):c.23C>T (p.Thr8Met) rs145500023
NM_000215.3(JAK3):c.2452G>A (p.Glu818Lys) rs374191135
NM_000215.3(JAK3):c.2491-3C>G rs1568401934
NM_000215.3(JAK3):c.2518C>T (p.Arg840Cys)
NM_000215.3(JAK3):c.2581G>A (p.Gly861Arg)
NM_000215.3(JAK3):c.2593C>G (p.Gln865Glu) rs749480147
NM_000215.3(JAK3):c.2609G>A (p.Arg870Gln)
NM_000215.3(JAK3):c.260_262TCT[1] (p.Phe88del) rs1568408091
NM_000215.3(JAK3):c.2619G>T (p.Gln873His)
NM_000215.3(JAK3):c.2636A>G (p.His879Arg) rs3179893
NM_000215.3(JAK3):c.2660G>A (p.Arg887His)
NM_000215.3(JAK3):c.2756C>T (p.Ala919Val)
NM_000215.3(JAK3):c.2764G>A (p.Asp922Asn)
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.28C>G (p.Leu10Val) rs1052019264
NM_000215.3(JAK3):c.3356A>G (p.His1119Arg)
NM_000215.3(JAK3):c.3371C>T (p.Ser1124Leu)
NM_000215.3(JAK3):c.362G>A (p.Arg121His) rs143586866
NM_000215.3(JAK3):c.446G>C (p.Arg149Pro)
NM_000215.3(JAK3):c.478G>T (p.Gly160Cys)
NM_000215.3(JAK3):c.512C>T (p.Ala171Val)
NM_000215.3(JAK3):c.5C>T (p.Ala2Val) rs1568408509
NM_000215.3(JAK3):c.653G>T (p.Arg218Leu)
NM_000215.3(JAK3):c.81T>A (p.His27Gln) rs1039181282
NM_000215.3(JAK3):c.828C>A (p.Asp276Glu)
NM_000732.4(CD3D):c.211T>C (p.Tyr71His)
NM_000732.4(CD3D):c.244A>G (p.Lys82Glu) rs1555119773
NM_000732.4(CD3D):c.418C>A (p.Gln140Lys) rs201126605
NM_000732.4(CD3D):c.440A>G (p.Gln147Arg)
NM_000732.4(CD3D):c.450+6C>T rs193922617
NM_000732.4(CD3D):c.457C>G (p.Arg153Gly)
NM_000732.4(CD3D):c.463C>T (p.Arg155Ter) rs777721098
NM_000732.4(CD3D):c.485A>T (p.His162Leu)
NM_000732.4(CD3D):c.52C>A (p.Gln18Lys) rs141902449
NM_000732.4(CD3D):c.60C>G (p.Ser20Arg)
NM_000732.4(CD3D):c.76A>G (p.Ile26Val) rs201374139
NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)
NM_000733.3(CD3E):c.353-5C>A rs374456909
NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) rs200258299
NM_000733.3(CD3E):c.49+3G>A rs202200315
NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)
NM_000733.3(CD3E):c.567+10G>T
NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)
NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) rs141553540
NM_000733.3(CD3E):c.617G>A (p.Arg206His)
NM_001193333.2(CORO1A):c.1204C>T (p.Arg402Trp) rs150186033
NM_001193333.2(CORO1A):c.1247G>A (p.Arg416Lys) rs1555491117
NM_001193333.2(CORO1A):c.1252G>A (p.Ala418Thr)
NM_001193333.2(CORO1A):c.1280C>T (p.Ser427Leu)
NM_001193333.2(CORO1A):c.347T>C (p.Leu116Pro)
NM_001193333.2(CORO1A):c.362G>A (p.Arg121Gln)
NM_001193333.2(CORO1A):c.520G>A (p.Val174Met)
NM_001193333.2(CORO1A):c.616C>T (p.Arg206Cys)
NM_001193333.2(CORO1A):c.670G>A (p.Val224Met)
NM_001193333.2(CORO1A):c.764T>C (p.Leu255Pro)
NM_198053.2(CD247):c.128G>T (p.Gly43Val) rs1557996000
NM_198053.2(CD247):c.162+8C>A
NM_198053.2(CD247):c.250G>C (p.Asp84His)
NM_198053.2(CD247):c.263A>G (p.Lys88Arg)
NM_198053.2(CD247):c.275G>A (p.Arg92Gln)
NM_198053.2(CD247):c.27G>A (p.Ala9=) rs757294201
NM_198053.2(CD247):c.394C>T (p.Arg132Cys)
NM_198053.2(CD247):c.427C>T (p.Gln143Ter) rs759213998

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