List of variants reported as pathogenic for X-linked severe combined immunodeficiency by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 68

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_70328107)_(70328216_?)del
NC_000023.10:g.(?_70330774)_(70331695_?)del
NC_000023.11:g.(?_71108277)_(71108346_?)del
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)	rs1556331272
NM_000206.3(IL2RG):c.115+2T>C	rs2147751760
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs)	rs2092262555
NM_000206.3(IL2RG):c.148del (p.Leu50fs)	rs2147751090
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg)	rs1602289649
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)	rs1057520644
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)	rs1282558220
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)	rs2147750927
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)	rs1602289631
NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)
NM_000206.3(IL2RG):c.269+1G>T	rs2092262300
NM_000206.3(IL2RG):c.270-15A>G	rs886039387
NM_000206.3(IL2RG):c.270-1G>T	rs193922346
NM_000206.3(IL2RG):c.270G>A (p.Trp90Ter)	rs1569480047
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs)	rs2147751892
NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)	rs775704953
NM_000206.3(IL2RG):c.294del (p.Val99fs)	rs2092261618
NM_000206.3(IL2RG):c.302_384dup (p.Val129fs)	rs2147750252
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)	rs193922347
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)	rs2147750382
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)
NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)
NM_000206.3(IL2RG):c.359dup (p.Glu121fs)	rs2147750311
NM_000206.3(IL2RG):c.376del (p.Gln126fs)
NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter)	rs1602289411
NM_000206.3(IL2RG):c.455-2A>C	rs2092260728
NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter)	rs1556330568
NM_000206.3(IL2RG):c.52del (p.Leu18fs)	rs2147751877
NM_000206.3(IL2RG):c.546_549del (p.Cys182fs)	rs2147749701
NM_000206.3(IL2RG):c.548del (p.Leu183fs)	rs1556330562
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter)	rs2092260520
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter)	rs1556330552
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
NM_000206.3(IL2RG):c.594+1G>A
NM_000206.3(IL2RG):c.594+2_594+3del	rs1602289183
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter)	rs2147748363
NM_000206.3(IL2RG):c.602C>G (p.Ser201Ter)	rs1556330286
NM_000206.3(IL2RG):c.603_604del (p.Val202fs)	rs2092258288
NM_000206.3(IL2RG):c.612T>A (p.Tyr204Ter)	rs2147748344
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)	rs111033618
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)	rs869320658
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)	rs869320659
NM_000206.3(IL2RG):c.677G>A (p.Arg226His)	rs869320660
NM_000206.3(IL2RG):c.713G>A (p.Ser238Asn)	rs2147748142
NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter)	rs1556330234
NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)	rs2147748109
NM_000206.3(IL2RG):c.758-1G>A	rs886042051
NM_000206.3(IL2RG):c.758-2A>G	rs2147747509
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs)	rs2147747375
NM_000206.3(IL2RG):c.829del (p.Leu277fs)
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln)	rs111033617
NM_000206.3(IL2RG):c.855-1G>A	rs1556329822
NM_000206.3(IL2RG):c.855-2A>C	rs2147746826
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)	rs137852508
NM_000206.3(IL2RG):c.865dup (p.Arg289fs)
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)	rs137852510
NM_000206.3(IL2RG):c.879del (p.Lys294fs)
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs)	rs1556329779
NM_000206.3(IL2RG):c.958_959del (p.Leu321fs)	rs1602288051
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	rs1064793347

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