ClinVar Miner

List of variants in gene ADA, LOC107303343 studied for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
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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.95+165A>G rs967807 0.90213
NM_000022.3(ADA):c.-101G>A rs36216718 0.04373
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000022.4(ADA):c.36= (p.Val12=) rs394105 0.01530
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000022.4(ADA):c.110C>T (p.Ala37Val) rs151336936 0.00150
NM_000022.3(ADA):c.-123G>A rs997075639 0.00016
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000022.4(ADA):c.57C>T (p.Asp19=) rs762695968 0.00009
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872 0.00006
NM_000022.4(ADA):c.179A>G (p.Asp60Gly) rs760262095 0.00004
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695 0.00004
NM_000022.4(ADA):c.96-4C>T rs764177495 0.00004
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896 0.00003
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys) rs759080719 0.00003
NM_000022.4(ADA):c.111C>T (p.Ala37=) rs374029074 0.00002
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145 0.00002
NM_000022.4(ADA):c.45T>C (p.His15=) rs906269498 0.00002
NM_000022.4(ADA):c.-28G>C rs1186616350 0.00001
NM_000022.4(ADA):c.-67C>T rs926706024 0.00001
NM_000022.4(ADA):c.108C>T (p.Ile36=) rs748611869 0.00001
NM_000022.4(ADA):c.117A>G (p.Pro39=) rs747148184 0.00001
NM_000022.4(ADA):c.125C>G (p.Thr42Arg) rs780318972 0.00001
NM_000022.4(ADA):c.145G>A (p.Val49Ile) rs1306348962 0.00001
NM_000022.4(ADA):c.149T>C (p.Ile50Thr) rs1057460440 0.00001
NM_000022.4(ADA):c.186G>A (p.Leu62=) rs767064067 0.00001
NM_000022.4(ADA):c.1A>G (p.Met1Val) rs1363043396 0.00001
NM_000022.4(ADA):c.216C>T (p.Ile72=) rs769218320 0.00001
NM_000022.4(ADA):c.217G>A (p.Ala73Thr) rs921477673 0.00001
NM_000022.4(ADA):c.218+10C>T rs372418784 0.00001
NM_000022.4(ADA):c.218+1G>A rs528390681 0.00001
NM_000022.4(ADA):c.33+13G>C rs762896507 0.00001
NM_000022.4(ADA):c.33+3G>A rs774061553 0.00001
NM_000022.4(ADA):c.33+9G>T rs770723333 0.00001
NM_000022.4(ADA):c.34-18C>T rs754341978 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NC_000020.11:g.(?_44651555)_(44651627_?)del
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.103G>C (p.Gly35Arg)
NM_000022.4(ADA):c.109G>A (p.Ala37Thr)
NM_000022.4(ADA):c.115C>G (p.Pro39Ala) rs2065409743
NM_000022.4(ADA):c.126A>G (p.Thr42=)
NM_000022.4(ADA):c.12G>T (p.Thr4=)
NM_000022.4(ADA):c.132G>A (p.Glu44=)
NM_000022.4(ADA):c.135G>A (p.Gly45=) rs2065409509
NM_000022.4(ADA):c.135G>C (p.Gly45=)
NM_000022.4(ADA):c.138G>A (p.Leu46=)
NM_000022.4(ADA):c.141G>A (p.Leu47=)
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
NM_000022.4(ADA):c.150T>C (p.Ile50=)
NM_000022.4(ADA):c.153C>T (p.Gly51=)
NM_000022.4(ADA):c.154A>T (p.Met52Leu) rs2065409254
NM_000022.4(ADA):c.159C>T (p.Asp53=)
NM_000022.4(ADA):c.15C>A (p.Pro5=)
NM_000022.4(ADA):c.15C>G (p.Pro5=) rs1377009879
NM_000022.4(ADA):c.15C>T (p.Pro5=)
NM_000022.4(ADA):c.165G>A (p.Pro55=) rs764188731
NM_000022.4(ADA):c.165G>T (p.Pro55=) rs764188731
NM_000022.4(ADA):c.168C>T (p.Leu56=)
NM_000022.4(ADA):c.16G>T (p.Ala6Ser)
NM_000022.4(ADA):c.177A>T (p.Pro59=) rs2145324680
NM_000022.4(ADA):c.184C>T (p.Leu62=)
NM_000022.4(ADA):c.187del (p.Ala63fs)
NM_000022.4(ADA):c.190A>G (p.Lys64Glu)
NM_000022.4(ADA):c.19T>C (p.Phe7Leu)
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.201C>T (p.Tyr67=) rs1419063255
NM_000022.4(ADA):c.210T>C (p.Pro70=)
NM_000022.4(ADA):c.214A>G (p.Ile72Val)
NM_000022.4(ADA):c.218+10C>A rs372418784
NM_000022.4(ADA):c.218+11C>T
NM_000022.4(ADA):c.218+14A>C
NM_000022.4(ADA):c.218+15A>G
NM_000022.4(ADA):c.218+17C>G rs2145324527
NM_000022.4(ADA):c.218+17C>T
NM_000022.4(ADA):c.218+1G>T
NM_000022.4(ADA):c.218+20C>T
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.218C>T (p.Ala73Val)
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
NM_000022.4(ADA):c.33+10C>G
NM_000022.4(ADA):c.33+12C>G
NM_000022.4(ADA):c.33+13G>A
NM_000022.4(ADA):c.33+17G>A
NM_000022.4(ADA):c.33+17G>T
NM_000022.4(ADA):c.33+17dup rs1246752878
NM_000022.4(ADA):c.33+1G>A rs587776534
NM_000022.4(ADA):c.33+1G>C rs587776534
NM_000022.4(ADA):c.33+2_33+104del rs2145366792
NM_000022.4(ADA):c.33+8C>T
NM_000022.4(ADA):c.34-10C>T
NM_000022.4(ADA):c.34-11_55del rs1230022655
NM_000022.4(ADA):c.34-12G>A
NM_000022.4(ADA):c.34-16C>T
NM_000022.4(ADA):c.34-20T>C
NM_000022.4(ADA):c.34-29CT[3]
NM_000022.4(ADA):c.34-6T>C rs1251733870
NM_000022.4(ADA):c.34-7del rs1297398786
NM_000022.4(ADA):c.36_37delinsAA (p.Glu13Lys) rs2145338174
NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000022.4(ADA):c.48C>T (p.Val16=) rs2145338144
NM_000022.4(ADA):c.49C>T (p.His17Tyr)
NM_000022.4(ADA):c.49del (p.His17fs)
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) rs762695968
NM_000022.4(ADA):c.76A>C (p.Thr26Pro)
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)
NM_000022.4(ADA):c.93C>A (p.Gly31=)
NM_000022.4(ADA):c.95+10T>C rs1347064693
NM_000022.4(ADA):c.95+11A>G
NM_000022.4(ADA):c.95+13A>G
NM_000022.4(ADA):c.95+17G>A
NM_000022.4(ADA):c.95+17G>C
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.95+1G>T
NM_000022.4(ADA):c.96-10T>C
NM_000022.4(ADA):c.96-10T>G rs2145324983
NM_000022.4(ADA):c.96-12T>C rs2065410397
NM_000022.4(ADA):c.96-17_96-14del
NM_000022.4(ADA):c.96-20A>C
NM_000022.4(ADA):c.96-3C>T rs771692807
NM_000022.4(ADA):c.96-6T>C
NM_000022.4(ADA):c.96-7T>C rs2145324973
NM_000022.4(ADA):c.96G>A (p.Arg32=)
NM_000022.4(ADA):c.99G>A (p.Arg33=) rs1357860118

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