ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to ADA deficiency by Invitae

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Total variants: 115
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HGVS dbSNP
NC_000020.11:g.(?_44636217)_(44636298_?)del
NC_000020.11:g.(?_44636217)_(44636298_?)dup
NC_000020.11:g.(?_44651555)_(44651627_?)del
NC_000020.11:g.(?_44651565)_(44651768_?)del
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.1008A>G (p.Pro336=) rs762614678
NM_000022.4(ADA):c.1019_1020AG[1] (p.Arg341fs)
NM_000022.4(ADA):c.1020G>A (p.Lys340=) rs761572884
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr) rs779530705
NM_000022.4(ADA):c.1054G>A (p.Gly352Arg)
NM_000022.4(ADA):c.1065T>C (p.Pro355=) rs371814756
NM_000022.4(ADA):c.1079-7C>T rs551934402
NM_000022.4(ADA):c.108C>T (p.Ile36=) rs748611869
NM_000022.4(ADA):c.110C>T (p.Ala37Val) rs151336936
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646
NM_000022.4(ADA):c.218+1G>A rs528390681
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.224G>A (p.Cys75Tyr)
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.260T>C (p.Val87Ala) rs778994749
NM_000022.4(ADA):c.272C>T (p.Ala91Val)
NM_000022.4(ADA):c.283G>A (p.Val95Met)
NM_000022.4(ADA):c.298G>A (p.Val100Met) rs1386689344
NM_000022.4(ADA):c.301C>G (p.Arg101Gly)
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.313C>T (p.His105Tyr) rs201522960
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.33+3G>A
NM_000022.4(ADA):c.362+4A>G rs370857405
NM_000022.4(ADA):c.36= (p.Val12=) rs394105
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
NM_000022.4(ADA):c.381C>T (p.Asp127=) rs7344760
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.387G>A (p.Val129=) rs1288730009
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882
NM_000022.4(ADA):c.422A>C (p.Glu141Ala) rs1600923570
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.452T>C (p.Ile151Thr)
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.479-2del rs1600921786
NM_000022.4(ADA):c.479-9C>T rs761848284
NM_000022.4(ADA):c.500A>G (p.Glu167Gly) rs372671189
NM_000022.4(ADA):c.525G>A (p.Gln175=) rs769506264
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.572G>A (p.Ser191Asn)
NM_000022.4(ADA):c.578T>A (p.Leu193His) rs767083081
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) rs762695968
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.608A>C (p.Glu203Ala)
NM_000022.4(ADA):c.618G>T (p.Lys206Asn)
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.621C>T (p.Ser207=) rs373256688
NM_000022.4(ADA):c.622G>A (p.Gly208Ser)
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
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.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.645C>T (p.Ala215=) rs748671151
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.659C>T (p.Ser220Leu)
NM_000022.4(ADA):c.660G>A (p.Ser220=) rs147038410
NM_000022.4(ADA):c.661G>A (p.Ala221Thr)
NM_000022.4(ADA):c.663C>T (p.Ala221=) rs553639716
NM_000022.4(ADA):c.664G>A (p.Glu222Lys)
NM_000022.4(ADA):c.678+5G>C
NM_000022.4(ADA):c.679-6C>T rs375562913
NM_000022.4(ADA):c.690dup (p.Leu231fs)
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.705del (p.Leu236fs)
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.739G>A (p.Ala247Thr)
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) rs148994526
NM_000022.4(ADA):c.770T>C (p.Met257Thr)
NM_000022.4(ADA):c.777C>T (p.Phe259=) rs772309012
NM_000022.4(ADA):c.780+7G>A rs371862936
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.4(ADA):c.844C>T (p.Arg282Trp) rs559798694
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)
NM_000022.4(ADA):c.902A>G (p.Lys301Arg)
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.932C>T (p.Thr311Ile)
NM_000022.4(ADA):c.937C>A (p.Arg313=) rs79249850
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_000022.4(ADA):c.95+9A>G rs765216
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.96-3C>T
NM_000022.4(ADA):c.96-4C>T rs764177495
NM_000022.4(ADA):c.970del (p.Arg324fs)
NM_000022.4(ADA):c.975+8G>A rs192148185

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