ClinVar Miner

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

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.159C>T (p.Asn53=) rs362129 0.43592
NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=) rs7289170 0.28593
NM_001282225.2(ADA2):c.1442+11T>C rs58754958 0.28284
NM_001282225.2(ADA2):c.1240-5C>G rs3764846 0.27480
NM_001282225.2(ADA2):c.511C>T (p.Arg171Trp) rs115986203 0.00508
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=) rs2231487 0.00500
NM_001282225.2(ADA2):c.1081+18G>A rs200622282 0.00291
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_001282225.2(ADA2):c.542+7A>G rs149078840 0.00161
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001282225.2(ADA2):c.882-11del rs768002473 0.00036
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg) rs2231495
NM_001282225.2(ADA2):c.1082-42_1082-16del rs577994684
NM_001282225.2(ADA2):c.138G>C (p.Leu46=) rs7289141
NM_001282225.2(ADA2):c.972+9T>C

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