ClinVar Miner

List of variants in gene combination ADA, LOC107303343 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
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_000022.4(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.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.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.108C>T (p.Ile36=) rs748611869 0.00001
NM_000022.4(ADA):c.117A>G (p.Pro39=) rs747148184 0.00001
NM_000022.4(ADA):c.186G>A (p.Leu62=) rs767064067 0.00001
NM_000022.4(ADA):c.216C>T (p.Ile72=) rs769218320 0.00001
NM_000022.4(ADA):c.218+10C>T rs372418784 0.00001
NM_000022.4(ADA):c.33+13G>C rs762896507 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.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.150T>C (p.Ile50=)
NM_000022.4(ADA):c.153C>T (p.Gly51=)
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.177A>T (p.Pro59=) rs2145324680
NM_000022.4(ADA):c.184C>T (p.Leu62=)
NM_000022.4(ADA):c.201C>T (p.Tyr67=) rs1419063255
NM_000022.4(ADA):c.210T>C (p.Pro70=)
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+20C>T
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.34-10C>T
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.48C>T (p.Val16=) rs2145338144
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.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.96-6T>C
NM_000022.4(ADA):c.96-7T>C rs2145324973
NM_000022.4(ADA):c.99G>A (p.Arg33=) rs1357860118

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