ClinVar Miner

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

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000206.3(IL2RG):c.761A>T (p.Asn254Ile) rs368726465 0.00005
NM_000206.3(IL2RG):c.607G>A (p.Asp203Asn) rs987981899 0.00004
NM_000206.3(IL2RG):c.821T>C (p.Ile274Thr) rs370677485 0.00003
NM_000206.3(IL2RG):c.226A>G (p.Ser76Gly) rs745652226 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000206.3(IL2RG):c.866G>A (p.Arg289Gln) rs774953764 0.00002
NM_000206.3(IL2RG):c.967C>G (p.Pro323Ala) rs974329997 0.00002
NM_000206.3(IL2RG):c.1081C>A (p.Pro361Thr) rs778943977 0.00001
NM_000206.3(IL2RG):c.280T>A (p.Ser94Thr) rs201187311 0.00001
NM_000206.3(IL2RG):c.412C>T (p.Pro138Ser) rs1266997803 0.00001
NM_000206.3(IL2RG):c.553C>T (p.His185Tyr) rs1477944387 0.00001
NM_000206.3(IL2RG):c.556T>G (p.Leu186Val) rs1482339326 0.00001
NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg) rs745952883 0.00001
NC_000023.10:g.(?_70327586)_(70683896_?)dup
NC_000023.11:g.71111644G>T
NM_000206.2(IL2RG):c.-105C>T rs1396169268
NM_000206.3(IL2RG):c.*307_*308del rs2147745220
NM_000206.3(IL2RG):c.1010C>A (p.Pro337Gln)
NM_000206.3(IL2RG):c.1043C>T (p.Ala348Val)
NM_000206.3(IL2RG):c.1046C>T (p.Ser349Phe)
NM_000206.3(IL2RG):c.1049del (p.Pro350fs)
NM_000206.3(IL2RG):c.1082del (p.Pro361fs) rs745545309
NM_000206.3(IL2RG):c.1094T>C (p.Leu365Pro) rs1602287912
NM_000206.3(IL2RG):c.1098_1099delinsTT (p.Lys366_Pro367delinsAsnSer) rs2147745662
NM_000206.3(IL2RG):c.115+13G>A
NM_000206.3(IL2RG):c.153T>A (p.Ser51Arg)
NM_000206.3(IL2RG):c.17T>C (p.Leu6Ser) rs2092264087
NM_000206.3(IL2RG):c.206A>G (p.Tyr69Cys)
NM_000206.3(IL2RG):c.215G>T (p.Cys72Phe) rs1556330960
NM_000206.3(IL2RG):c.238C>A (p.Pro80Thr) rs2147750896
NM_000206.3(IL2RG):c.266A>G (p.Tyr89Cys)
NM_000206.3(IL2RG):c.269G>T (p.Trp90Leu) rs2092262308
NM_000206.3(IL2RG):c.270G>C (p.Trp90Cys)
NM_000206.3(IL2RG):c.270G>T (p.Trp90Cys) rs1569480047
NM_000206.3(IL2RG):c.278A>G (p.Asn93Ser)
NM_000206.3(IL2RG):c.31C>T (p.Leu11Phe)
NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro) rs1204738180
NM_000206.3(IL2RG):c.358A>G (p.Lys120Glu)
NM_000206.3(IL2RG):c.371_372insAGT (p.Leu124_Tyr125insVal)
NM_000206.3(IL2RG):c.395T>G (p.Leu132Arg) rs2092261278
NM_000206.3(IL2RG):c.401A>G (p.Asp134Gly) rs2147750229
NM_000206.3(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal) rs1602289405
NM_000206.3(IL2RG):c.433A>G (p.Met145Val) rs1602289401
NM_000206.3(IL2RG):c.452T>C (p.Leu151Pro) rs137852511
NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser) rs1064793153
NM_000206.3(IL2RG):c.461C>A (p.Pro154His) rs1602289242
NM_000206.3(IL2RG):c.463T>A (p.Trp155Arg) rs2147749841
NM_000206.3(IL2RG):c.464G>C (p.Trp155Ser)
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val) rs2147749821
NM_000206.3(IL2RG):c.491A>T (p.Lys164Ile)
NM_000206.3(IL2RG):c.530G>T (p.Arg177Ile) rs2147749719
NM_000206.3(IL2RG):c.577T>C (p.Trp193Arg) rs2092260403
NM_000206.3(IL2RG):c.580G>T (p.Asp194Tyr) rs1569479981
NM_000206.3(IL2RG):c.589T>C (p.Trp197Arg) rs2147749604
NM_000206.3(IL2RG):c.597A>C (p.Glu199Asp) rs1602288813
NM_000206.3(IL2RG):c.600A>T (p.Gln200His)
NM_000206.3(IL2RG):c.622T>C (p.Phe208Leu) rs2147748325
NM_000206.3(IL2RG):c.626C>T (p.Ser209Phe)
NM_000206.3(IL2RG):c.62T>C (p.Val21Ala) rs376612175
NM_000206.3(IL2RG):c.632C>G (p.Pro211Arg)
NM_000206.3(IL2RG):c.653G>T (p.Arg218Leu)
NM_000206.3(IL2RG):c.664C>G (p.Arg222Gly)
NM_000206.3(IL2RG):c.667G>A (p.Val223Ile)
NM_000206.3(IL2RG):c.685C>A (p.Pro229Thr) rs1602288776
NM_000206.3(IL2RG):c.725A>G (p.His242Arg)
NM_000206.3(IL2RG):c.758-4dup rs2092256674
NM_000206.3(IL2RG):c.763C>G (p.Pro255Ala)
NM_000206.3(IL2RG):c.779T>C (p.Leu260Ser)
NM_000206.3(IL2RG):c.80T>C (p.Ile27Thr)
NM_000206.3(IL2RG):c.811G>A (p.Gly271Arg)
NM_000206.3(IL2RG):c.835G>A (p.Val279Met)
NM_000206.3(IL2RG):c.839A>G (p.Tyr280Cys)
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000206.3(IL2RG):c.955G>A (p.Glu319Lys)
NM_000206.3(IL2RG):c.96G>T (p.Gly32=)
NM_000206.3(IL2RG):c.97A>G (p.Asn33Asp)
NM_000206.3(IL2RG):c.990C>A (p.Cys330Ter)

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