ClinVar Miner

List of variants in gene ADA2 reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001282225.2(ADA2):c.753G>A (p.Pro251=) rs369924229 0.00009
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg) rs45511697 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) rs750868279 0.00005
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter) rs755007390 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001282225.2(ADA2):c.940_941del (p.Lys314fs) rs768987774 0.00002
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001282225.2(ADA2):c.2T>C (p.Met1Thr) rs745795188 0.00001
NC_000022.10:g.(?_17669209)_(17672720_?)del
NC_000022.10:g.(?_17684433)_(17690567_?)del
NC_000022.11:g.(?_17188319)_(17188467_?)del
NM_001282225.2(ADA2):c.1040del (p.Asp347fs) rs2062064773
NM_001282225.2(ADA2):c.1055del (p.Pro352fs)
NM_001282225.2(ADA2):c.1058_1061del (p.Tyr353fs)
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp)
NM_001282225.2(ADA2):c.1196G>A (p.Trp399Ter) rs1568966771
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.1303_1319del (p.His434_Pro435insTer)
NM_001282225.2(ADA2):c.1362_1370del (p.Asp454_Tyr456del) rs1452477558
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.137dup (p.Arg49fs)
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.1430dup (p.Met477fs) rs2061972270
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.158del (p.Asn53fs) rs2062393838
NM_001282225.2(ADA2):c.239del (p.Phe80fs)
NM_001282225.2(ADA2):c.271del (p.His91fs) rs2062392148
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys) rs745795188
NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp) rs587777240
NM_001282225.2(ADA2):c.39C>A (p.Cys13Ter)
NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp) rs775997344
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) rs2123699776
NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)
NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter)
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.753+2T>A
NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser) rs587777242
NM_001282225.2(ADA2):c.881+1G>A rs2123651193
NM_001282225.2(ADA2):c.882-2A>G rs2062095528
NM_001282225.2(ADA2):c.[1196G>A;1367A>G]

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