ClinVar Miner

List of variants studied for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.36G>A (p.Val12=) rs394105 0.98470
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828 0.00639
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000022.4(ADA):c.660G>A (p.Ser220=) rs147038410 0.00041
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463 0.00030
NM_000022.4(ADA):c.975+8G>A rs192148185 0.00029
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) rs148994526 0.00019
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184 0.00014
NM_000022.4(ADA):c.664G>A (p.Glu222Lys) rs371353841 0.00011
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154 0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000022.4(ADA):c.362+4A>G rs370857405 0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738 0.00007
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872 0.00006
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000022.4(ADA):c.844C>T (p.Arg282Trp) rs559798694 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000022.4(ADA):c.260T>C (p.Val87Ala) rs778994749 0.00004
NM_000022.4(ADA):c.1065T>C (p.Pro355=) rs371814756 0.00003
NM_000022.4(ADA):c.1079-7C>T rs551934402 0.00003
NM_000022.4(ADA):c.227G>A (p.Arg76Gln) rs374983783 0.00003
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000022.4(ADA):c.578T>A (p.Leu193His) rs767083081 0.00003
NM_000022.4(ADA):c.622G>A (p.Gly208Ser) rs761846813 0.00003
NM_000022.4(ADA):c.739G>A (p.Ala247Thr) rs754578956 0.00003
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys) rs759080719 0.00003
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145 0.00002
NM_000022.4(ADA):c.283G>A (p.Val95Met) rs145963969 0.00002
NM_000022.4(ADA):c.508A>G (p.Lys170Glu) rs371134570 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.608A>C (p.Glu203Ala) rs200089190 0.00002
NM_000022.4(ADA):c.618G>T (p.Lys206Asn) rs750364735 0.00002
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902 0.00002
NM_000022.4(ADA):c.899T>G (p.Phe300Cys) rs371305751 0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327 0.00002
NM_000022.4(ADA):c.932C>T (p.Thr311Ile) rs773914135 0.00002
NM_000022.4(ADA):c.33+3G>A rs774061553 0.00001
NM_000022.4(ADA):c.349T>C (p.Trp117Arg) rs771162170 0.00001
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.479-9C>T rs761848284 0.00001
NM_000022.4(ADA):c.500A>G (p.Glu167Gly) rs372671189 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.645C>T (p.Ala215=) rs748671151 0.00001
NM_000022.4(ADA):c.938G>A (p.Arg313Gln) rs747500864 0.00001
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr) rs779530705
NM_000022.4(ADA):c.1077A>T (p.Ala359=) rs2065316590
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) rs762695968
NM_000022.4(ADA):c.659C>T (p.Ser220Leu) rs747167602
NM_000022.4(ADA):c.661G>A (p.Ala221Thr) rs2065347889
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.708G>A (p.Leu236=) rs757155433
NM_000022.4(ADA):c.751A>T (p.Arg251Trp) rs1254815787
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000022.4(ADA):c.825C>T (p.Asp275=) rs778167423
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.96-3C>T rs771692807

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