List of variants reported as likely benign for T-B+ severe combined immunodeficiency due to gamma chain deficiency by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 161

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HGVS	dbSNP	gnomAD frequency
NM_000206.3(IL2RG):c.618T>A (p.His206Gln)	rs761647770	0.00015
NM_000206.3(IL2RG):c.269+14C>T	rs7879765	0.00012
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)	rs140216601	0.00009
NM_000206.3(IL2RG):c.459C>T (p.Ile153=)	rs150560580	0.00009
NM_000206.3(IL2RG):c.51C>T (p.Pro17=)	rs773483114	0.00009
NM_000206.3(IL2RG):c.855-8C>T	rs372985214	0.00009
NM_000206.3(IL2RG):c.438A>G (p.Leu146=)	rs764216497	0.00007
NM_000206.3(IL2RG):c.504C>T (p.Ser168=)	rs752921124	0.00006
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala)	rs7885041	0.00005
NM_000206.3(IL2RG):c.74C>T (p.Thr25Met)	rs751455361	0.00005
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)	rs374270413	0.00004
NM_000206.3(IL2RG):c.1077C>A (p.Ala359=)	rs772150263	0.00003
NM_000206.3(IL2RG):c.339T>C (p.Ser113=)	rs941308764	0.00003
NM_000206.3(IL2RG):c.822C>T (p.Ile274=)	rs768058067	0.00003
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)	rs771221019	0.00002
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)	rs767383120	0.00002
NM_000206.3(IL2RG):c.116-5T>G	rs754256514	0.00002
NM_000206.3(IL2RG):c.174A>G (p.Pro58=)	rs375735883	0.00002
NM_000206.3(IL2RG):c.294A>G (p.Lys98=)	rs2092261604	0.00002
NM_000206.3(IL2RG):c.327A>G (p.Glu109=)	rs772713987	0.00002
NM_000206.3(IL2RG):c.454+5T>C	rs758702784	0.00002
NM_000206.3(IL2RG):c.455-10A>G	rs748820536	0.00002
NM_000206.3(IL2RG):c.855-16C>T	rs752525322	0.00002
NM_000206.3(IL2RG):c.855-9C>T	rs764935731	0.00002
NM_000206.3(IL2RG):c.925-4T>C	rs758393948	0.00002
NM_000206.3(IL2RG):c.1066C>T (p.Pro356Ser)	rs760735556	0.00001
NM_000206.3(IL2RG):c.1080C>T (p.Pro360=)	rs748015056	0.00001
NM_000206.3(IL2RG):c.270-8T>C	rs1373165172	0.00001
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)	rs770804846	0.00001
NM_000206.3(IL2RG):c.366C>T (p.Ile122=)	rs746308376	0.00001
NM_000206.3(IL2RG):c.37T>C (p.Phe13Leu)	rs1015272346	0.00001
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)	rs758080286	0.00001
NM_000206.3(IL2RG):c.434T>A (p.Met145Lys)	rs751970923	0.00001
NM_000206.3(IL2RG):c.454+19G>A	rs1427562119	0.00001
NM_000206.3(IL2RG):c.455-4C>T	rs757827108	0.00001
NM_000206.3(IL2RG):c.594+17G>A	rs1005449113	0.00001
NM_000206.3(IL2RG):c.594+7G>A	rs1351674205	0.00001
NM_000206.3(IL2RG):c.660G>A (p.Thr220=)	rs1418438406	0.00001
NM_000206.3(IL2RG):c.702T>C (p.Ala234=)	rs769253412	0.00001
NM_000206.3(IL2RG):c.743G>A (p.Ser248Asn)	rs748539696	0.00001
NM_000206.3(IL2RG):c.758-19G>T	rs1270559875	0.00001
NM_000206.3(IL2RG):c.758-4A>G	rs781154927	0.00001
NM_000206.3(IL2RG):c.758-8T>C	rs750518545	0.00001
NM_000206.3(IL2RG):c.799G>A (p.Val267Ile)	rs759051897	0.00001
NM_000206.3(IL2RG):c.816G>A (p.Leu272=)	rs1272158575	0.00001
NM_000206.3(IL2RG):c.888A>G (p.Leu296=)	rs1409653685	0.00001
NM_000206.3(IL2RG):c.924+9G>T	rs1198550634	0.00001
NM_000206.3(IL2RG):c.927C>T (p.Ala309=)	rs1324352273	0.00001
NM_000206.3(IL2RG):c.961C>T (p.Leu321=)	rs1274437223	0.00001
NM_000206.3(IL2RG):c.1008C>T (p.Pro336=)	rs2092253805
NM_000206.3(IL2RG):c.1035G>T (p.Gly345=)
NM_000206.3(IL2RG):c.1041G>T (p.Gly347=)
NM_000206.3(IL2RG):c.1045T>G (p.Ser349Ala)
NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)
NM_000206.3(IL2RG):c.1059G>A (p.Gln353=)	rs2147745813
NM_000206.3(IL2RG):c.1077C>G (p.Ala359=)	rs772150263
NM_000206.3(IL2RG):c.1077C>T (p.Ala359=)	rs772150263
NM_000206.3(IL2RG):c.1080C>A (p.Pro360=)	rs748015056
NM_000206.3(IL2RG):c.1089C>T (p.Tyr363=)
NM_000206.3(IL2RG):c.1091C>A (p.Thr364Asn)
NM_000206.3(IL2RG):c.1092C>A (p.Thr364=)
NM_000206.3(IL2RG):c.1098G>A (p.Lys366=)	rs2147745670
NM_000206.3(IL2RG):c.1107C>T (p.Thr369=)
NM_000206.3(IL2RG):c.115+10C>T
NM_000206.3(IL2RG):c.116-14T>A
NM_000206.3(IL2RG):c.116-8C>T
NM_000206.3(IL2RG):c.124C>T (p.Leu42=)
NM_000206.3(IL2RG):c.138C>T (p.Pro46=)	rs1393929587
NM_000206.3(IL2RG):c.147C>T (p.Ser49=)
NM_000206.3(IL2RG):c.15A>G (p.Ser5=)
NM_000206.3(IL2RG):c.15A>T (p.Ser5=)	rs2147751939
NM_000206.3(IL2RG):c.204G>A (p.Glu68=)
NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)
NM_000206.3(IL2RG):c.216C>T (p.Cys72=)
NM_000206.3(IL2RG):c.219T>A (p.Thr73=)
NM_000206.3(IL2RG):c.231C>T (p.Ser77=)	rs1556330951
NM_000206.3(IL2RG):c.249C>T (p.Thr83=)	rs2147750887
NM_000206.3(IL2RG):c.258T>G (p.Thr86=)
NM_000206.3(IL2RG):c.261G>T (p.Leu87=)	rs2147750860
NM_000206.3(IL2RG):c.267T>C (p.Tyr89=)	rs2147750855
NM_000206.3(IL2RG):c.269+11G>C
NM_000206.3(IL2RG):c.269+15G>A	rs2092262251
NM_000206.3(IL2RG):c.269+16del
NM_000206.3(IL2RG):c.269+17G>C
NM_000206.3(IL2RG):c.269+18G>C
NM_000206.3(IL2RG):c.270-11T>C
NM_000206.3(IL2RG):c.270-15A>T	rs886039387
NM_000206.3(IL2RG):c.270-4C>G
NM_000206.3(IL2RG):c.270-7C>G
NM_000206.3(IL2RG):c.270-7C>T
NM_000206.3(IL2RG):c.279C>T (p.Asn93=)
NM_000206.3(IL2RG):c.30C>T (p.Ser10=)
NM_000206.3(IL2RG):c.316C>T (p.Leu106=)	rs2092261547
NM_000206.3(IL2RG):c.318A>G (p.Leu106=)	rs1389116834
NM_000206.3(IL2RG):c.333C>A (p.Ile111=)
NM_000206.3(IL2RG):c.333C>G (p.Ile111Met)	rs1373609177
NM_000206.3(IL2RG):c.333C>T (p.Ile111=)
NM_000206.3(IL2RG):c.363G>A (p.Glu121=)
NM_000206.3(IL2RG):c.369C>T (p.His123=)	rs2092261325
NM_000206.3(IL2RG):c.381A>C (p.Thr127=)	rs970632466
NM_000206.3(IL2RG):c.381A>G (p.Thr127=)	rs970632466
NM_000206.3(IL2RG):c.405A>C (p.Pro135=)
NM_000206.3(IL2RG):c.454+18G>C
NM_000206.3(IL2RG):c.455-13C>T
NM_000206.3(IL2RG):c.455-17T>G	rs768114423
NM_000206.3(IL2RG):c.455-19T>C
NM_000206.3(IL2RG):c.471A>C (p.Pro157=)
NM_000206.3(IL2RG):c.504C>G (p.Ser168=)
NM_000206.3(IL2RG):c.555C>T (p.His185=)
NM_000206.3(IL2RG):c.564G>A (p.Gln188=)
NM_000206.3(IL2RG):c.576C>T (p.Asp192=)	rs1378747798
NM_000206.3(IL2RG):c.594+10T>G
NM_000206.3(IL2RG):c.594+7G>T	rs1351674205
NM_000206.3(IL2RG):c.594+9C>G	rs1243040134
NM_000206.3(IL2RG):c.595-11T>C
NM_000206.3(IL2RG):c.595-17T>C
NM_000206.3(IL2RG):c.609T>C (p.Asp203=)
NM_000206.3(IL2RG):c.60A>C (p.Gly20=)	rs772095231
NM_000206.3(IL2RG):c.60A>G (p.Gly20=)
NM_000206.3(IL2RG):c.672G>A (p.Arg224=)
NM_000206.3(IL2RG):c.678C>T (p.Arg226=)	rs2147748213
NM_000206.3(IL2RG):c.687A>G (p.Pro229=)
NM_000206.3(IL2RG):c.726C>T (p.His242=)
NM_000206.3(IL2RG):c.72C>T (p.Asn24=)
NM_000206.3(IL2RG):c.741G>A (p.Gly247=)	rs2147748101
NM_000206.3(IL2RG):c.753A>T (p.Ser251=)	rs2147748094
NM_000206.3(IL2RG):c.757+11C>G
NM_000206.3(IL2RG):c.757+9G>A	rs2147748084
NM_000206.3(IL2RG):c.758-10T>G	rs2147747527
NM_000206.3(IL2RG):c.758-13C>A
NM_000206.3(IL2RG):c.758-13C>G
NM_000206.3(IL2RG):c.758-14T>C
NM_000206.3(IL2RG):c.765T>C (p.Pro255=)
NM_000206.3(IL2RG):c.774T>C (p.Phe258=)
NM_000206.3(IL2RG):c.777A>G (p.Ala259=)	rs1355288626
NM_000206.3(IL2RG):c.804C>T (p.Gly268=)	rs2147747411
NM_000206.3(IL2RG):c.814T>C (p.Leu272=)	rs2092256405
NM_000206.3(IL2RG):c.854+11G>C
NM_000206.3(IL2RG):c.854+15A>G	rs2147747283
NM_000206.3(IL2RG):c.854+16G>A
NM_000206.3(IL2RG):c.855-10C>A	rs2147746856
NM_000206.3(IL2RG):c.855-18C>T
NM_000206.3(IL2RG):c.855-19C>T
NM_000206.3(IL2RG):c.855-20C>T
NM_000206.3(IL2RG):c.855-5G>A
NM_000206.3(IL2RG):c.855-5G>C
NM_000206.3(IL2RG):c.855-5G>T
NM_000206.3(IL2RG):c.855-7_855-6del
NM_000206.3(IL2RG):c.855-8C>G
NM_000206.3(IL2RG):c.865C>A (p.Arg289=)	rs137852508
NM_000206.3(IL2RG):c.924+10C>G	rs2147746639
NM_000206.3(IL2RG):c.924+10C>T
NM_000206.3(IL2RG):c.924+12G>T
NM_000206.3(IL2RG):c.924+8C>A
NM_000206.3(IL2RG):c.924+8C>G	rs776065933
NM_000206.3(IL2RG):c.924+8C>T	rs776065933
NM_000206.3(IL2RG):c.925-8G>A
NM_000206.3(IL2RG):c.925-8G>C	rs1216156279
NM_000206.3(IL2RG):c.969A>T (p.Pro323=)
NM_000206.3(IL2RG):c.982C>A (p.Arg328=)	rs1064793347
NM_000206.3(IL2RG):c.993C>T (p.Leu331=)	rs2147745985

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