ClinVar Miner

List of variants in gene ADA2 studied for Sneddon syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001282225.2(ADA2):c.1081+18G>A rs200622282 0.00291
NM_001282225.2(ADA2):c.783C>T (p.Asp261=) rs150249309 0.00091
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) rs61747288 0.00068
NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr) rs61744537 0.00053
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001282225.2(ADA2):c.1423C>T (p.Leu475=) rs138076444 0.00034
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001282225.2(ADA2):c.985G>A (p.Asp329Asn) rs369716341 0.00012
NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln) rs45497794 0.00011
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val) rs151283756 0.00010
NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly) rs748893301 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr) rs373928007 0.00009
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001282225.2(ADA2):c.754-12del rs767647109 0.00007
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr) rs189403607 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001282225.2(ADA2):c.950C>T (p.Thr317Met) rs146788085 0.00006
NM_001282225.2(ADA2):c.702G>A (p.Glu234=) rs528271447 0.00005
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile) rs151014930 0.00004
NM_001282225.2(ADA2):c.72C>T (p.Phe24=) rs374752508 0.00004
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile) rs1265300292 0.00003
NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln) rs535337577 0.00003
NM_001282225.2(ADA2):c.32C>T (p.Ala11Val) rs147655483 0.00003
NM_001282225.2(ADA2):c.555T>C (p.Asn185=) rs758525993 0.00003
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp) rs750955849 0.00002
NM_001282225.2(ADA2):c.1082-10G>A rs772238679 0.00002
NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala) rs771622323 0.00002
NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys) rs747458336 0.00002
NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr) rs374965869 0.00002
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile) rs1446203580 0.00002
NM_001282225.2(ADA2):c.717C>T (p.Asn239=) rs142247490 0.00002
NM_001282225.2(ADA2):c.878A>G (p.His293Arg) rs767494439 0.00002
NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly) rs377213003 0.00001
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu) rs780583418 0.00001
NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn) rs370257828 0.00001
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val) rs375443506 0.00001
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg) rs749413678 0.00001
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr) rs369910191 0.00001
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile) rs756689332 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001282225.2(ADA2):c.647G>T (p.Gly216Val) rs766924184 0.00001
NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp) rs777662147 0.00001
NM_001282225.2(ADA2):c.753+7C>T rs762663812 0.00001
NM_001282225.2(ADA2):c.754-8C>T rs1427052554 0.00001
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro) rs777404100 0.00001
NM_001282225.2(ADA2):c.1040del (p.Asp347fs) rs2062064773
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1071C>T (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1081+16G>T rs748240651
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val) rs763170250
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser) rs1206824905
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) 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.143G>C (p.Gly48Ala) rs140149634
NM_001282225.2(ADA2):c.143G>T (p.Gly48Val) rs140149634
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.370C>T (p.Leu124=) rs2123709418
NM_001282225.2(ADA2):c.426G>T (p.Gly142=) rs143138564
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro) rs1437000359
NM_001282225.2(ADA2):c.570C>A (p.Thr190=)
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile) rs781131295
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) rs2123699776
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr) rs766768505

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