ClinVar Miner

List of variants in gene ADA2 reported as likely pathogenic for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys) rs747774101 0.00001
NM_001282225.2(ADA2):c.-47+2T>C
NM_001282225.2(ADA2):c.1081+1G>T rs1300843648
NM_001282225.2(ADA2):c.1082-2A>G
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs)
NM_001282225.2(ADA2):c.322+2T>A
NM_001282225.2(ADA2):c.323-2A>G
NM_001282225.2(ADA2):c.334C>T (p.His112Tyr) rs773226219
NM_001282225.2(ADA2):c.369G>A (p.Trp123Ter)
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys) rs772909795
NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro)
NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro) rs752890414
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.754-2A>G rs2062118599
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) rs865858930
NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)

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