ClinVar Miner

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

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
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.1386T>C (p.Ile462=) rs373797039 0.00051
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) rs61738625 0.00041
NM_001282225.2(ADA2):c.46C>T (p.Leu16=) rs367610393 0.00017
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu) rs140149634 0.00016
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_001282225.2(ADA2):c.1474A>G (p.Thr492Ala) rs780459163 0.00014
NM_001282225.2(ADA2):c.543C>T (p.Ser181=) rs751859598 0.00014
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001282225.2(ADA2):c.147G>A (p.Arg49=) rs146125672 0.00013
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.1013A>G (p.Lys338Arg) rs573337330 0.00009
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr) rs373928007 0.00009
NM_001282225.2(ADA2):c.687C>T (p.Phe229=) rs2231488 0.00009
NM_001282225.2(ADA2):c.754-5C>T rs530979152 0.00008
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.950C>T (p.Thr317Met) rs146788085 0.00006
NM_001282225.2(ADA2):c.1522G>A (p.Val508Met) rs767440845 0.00005
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) rs750868279 0.00005
NM_001282225.2(ADA2):c.917G>A (p.Arg306Gln) rs768927379 0.00005
NM_001282225.2(ADA2):c.1033G>A (p.Ala345Thr) rs752798667 0.00004
NM_001282225.2(ADA2):c.134G>A (p.Arg45Gln) rs571235882 0.00004
NM_001282225.2(ADA2):c.1442+6T>C rs369050563 0.00004
NM_001282225.2(ADA2):c.272A>G (p.His91Arg) rs149466386 0.00004
NM_001282225.2(ADA2):c.435G>C (p.Gln145His) rs752626692 0.00004
NM_001282225.2(ADA2):c.461G>A (p.Arg154His) rs545602214 0.00004
NM_001282225.2(ADA2):c.707A>G (p.Tyr236Cys) rs145966045 0.00004
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile) rs151014930 0.00004
NM_001282225.2(ADA2):c.1334T>C (p.Met445Thr) rs776544525 0.00003
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile) rs1265300292 0.00003
NM_001282225.2(ADA2):c.133C>T (p.Arg45Trp) rs777683953 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.79G>T (p.Ala27Ser) rs766768505 0.00003
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp) rs750955849 0.00002
NM_001282225.2(ADA2):c.1173C>G (p.His391Gln) rs780182069 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.25C>T (p.Arg9Trp) rs753994372 0.00002
NM_001282225.2(ADA2):c.282G>C (p.Glu94Asp) rs761776202 0.00002
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser) rs747107966 0.00002
NM_001282225.2(ADA2):c.359C>T (p.Thr120Ile) rs755786336 0.00002
NM_001282225.2(ADA2):c.377G>A (p.Arg126Lys) rs765071162 0.00002
NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys) rs200153182 0.00002
NM_001282225.2(ADA2):c.587T>C (p.Ile196Thr) rs538708563 0.00002
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile) rs1446203580 0.00002
NM_001282225.2(ADA2):c.878A>G (p.His293Arg) rs767494439 0.00002
NM_001282225.2(ADA2):c.881+6A>T rs759682181 0.00002
NM_001282225.2(ADA2):c.935G>A (p.Arg312Gln) rs746970158 0.00002
NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly) rs377213003 0.00001
NM_001282225.2(ADA2):c.101G>A (p.Arg34Gln) rs767960747 0.00001
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) rs374974565 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.1100T>C (p.Ile367Thr) rs2061988155 0.00001
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val) rs375443506 0.00001
NM_001282225.2(ADA2):c.1139C>T (p.Thr380Ile) rs765154508 0.00001
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg) rs749413678 0.00001
NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu) rs1168801973 0.00001
NM_001282225.2(ADA2):c.1240-6G>A rs781688965 0.00001
NM_001282225.2(ADA2):c.1307T>C (p.Met436Thr) rs775742013 0.00001
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr) rs369910191 0.00001
NM_001282225.2(ADA2):c.1439T>C (p.Ile480Thr) rs1388757088 0.00001
NM_001282225.2(ADA2):c.1445A>G (p.Tyr482Cys) rs1460820814 0.00001
NM_001282225.2(ADA2):c.278T>C (p.Ile93Thr) rs767399919 0.00001
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile) rs756689332 0.00001
NM_001282225.2(ADA2):c.378G>T (p.Arg126Ser) rs1163129294 0.00001
NM_001282225.2(ADA2):c.380A>G (p.Asn127Ser) rs547716532 0.00001
NM_001282225.2(ADA2):c.387C>T (p.Thr129=) rs1258338183 0.00001
NM_001282225.2(ADA2):c.470A>C (p.Glu157Ala) rs762092127 0.00001
NM_001282225.2(ADA2):c.514G>C (p.Val172Leu) rs1245539035 0.00001
NM_001282225.2(ADA2):c.542+5G>A rs754845225 0.00001
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu) rs199567025 0.00001
NM_001282225.2(ADA2):c.614C>T (p.Ser205Leu) rs369306297 0.00001
NM_001282225.2(ADA2):c.61A>G (p.Met21Val) rs773893396 0.00001
NM_001282225.2(ADA2):c.620T>G (p.Phe207Cys) rs1292778015 0.00001
NM_001282225.2(ADA2):c.641T>C (p.Ile214Thr) rs369510859 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.778C>T (p.His260Tyr) rs778374105 0.00001
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro) rs777404100 0.00001
NM_001282225.2(ADA2):c.856A>G (p.Ile286Val) rs755614060 0.00001
NM_001282225.2(ADA2):c.88A>G (p.Ile30Val) rs1601462414 0.00001
NM_001282225.2(ADA2):c.998C>A (p.Ser333Tyr) rs1293578507 0.00001
NC_000022.10:g.(?_17662353)_(17663671_?)dup
NC_000022.10:g.(?_17662373)_(17672720_?)dup
NC_000022.10:g.(?_17662373)_(17690567_?)dup
NC_000022.10:g.(?_17680419)_(17690587_?)dup
NC_000022.10:g.(?_17684433)_(17690567_?)dup
NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)
NM_001282225.2(ADA2):c.1004A>C (p.His335Pro)
NM_001282225.2(ADA2):c.1018G>T (p.Ala340Ser) rs1601430690
NM_001282225.2(ADA2):c.101G>C (p.Arg34Pro)
NM_001282225.2(ADA2):c.1030C>T (p.Pro344Ser) rs2123633992
NM_001282225.2(ADA2):c.1033G>C (p.Ala345Pro) rs752798667
NM_001282225.2(ADA2):c.1039G>A (p.Asp347Asn) rs2123633860
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) rs144447953
NM_001282225.2(ADA2):c.1097C>T (p.Ser366Phe) rs2123605324
NM_001282225.2(ADA2):c.1099A>G (p.Ile367Val)
NM_001282225.2(ADA2):c.10G>T (p.Asp4Tyr) rs370257828
NM_001282225.2(ADA2):c.1111A>T (p.Ile371Phe) rs2061987911
NM_001282225.2(ADA2):c.1134C>A (p.Asn378Lys) rs763728425
NM_001282225.2(ADA2):c.1135A>T (p.Thr379Ser) rs561591791
NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup) rs780690814
NM_001282225.2(ADA2):c.1146C>G (p.Ile382Met) rs776302859
NM_001282225.2(ADA2):c.115T>A (p.Leu39Met) rs538213260
NM_001282225.2(ADA2):c.1184G>A (p.Arg395Lys) rs2061986560
NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser) rs2061986476
NM_001282225.2(ADA2):c.1214T>C (p.Ile405Thr) rs757658203
NM_001282225.2(ADA2):c.1223G>C (p.Cys408Ser)
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu)
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282225.2(ADA2):c.1271A>G (p.His424Arg)
NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile) rs2123601456
NM_001282225.2(ADA2):c.1303C>T (p.Pro435Ser)
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val) rs763170250
NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys)
NM_001282225.2(ADA2):c.133C>G (p.Arg45Gly) rs777683953
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser) rs1206824905
NM_001282225.2(ADA2):c.1353G>T (p.Leu451Phe) rs2061973897
NM_001282225.2(ADA2):c.1354T>C (p.Ser452Pro) rs2123600965
NM_001282225.2(ADA2):c.1373T>C (p.Val458Ala) rs748893301
NM_001282225.2(ADA2):c.1423C>A (p.Leu475Met) rs138076444
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.1442+3G>A
NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn) rs774795047
NM_001282225.2(ADA2):c.1465G>A (p.Glu489Lys) rs45497794
NM_001282225.2(ADA2):c.1513A>G (p.Ile505Val)
NM_001282225.2(ADA2):c.151G>C (p.Val51Leu)
NM_001282225.2(ADA2):c.171G>C (p.Glu57Asp)
NM_001282225.2(ADA2):c.179A>G (p.Asn60Ser) rs878901507
NM_001282225.2(ADA2):c.186G>T (p.Arg62Ser) rs1555887378
NM_001282225.2(ADA2):c.191T>G (p.Met64Arg)
NM_001282225.2(ADA2):c.226A>G (p.Arg76Gly) rs2123715454
NM_001282225.2(ADA2):c.22G>A (p.Glu8Lys) rs914839065
NM_001282225.2(ADA2):c.232C>T (p.Leu78=) rs757225675
NM_001282225.2(ADA2):c.235A>T (p.Ile79Leu) rs2123715420
NM_001282225.2(ADA2):c.250A>G (p.Met84Val)
NM_001282225.2(ADA2):c.253C>G (p.His85Asp)
NM_001282225.2(ADA2):c.264G>T (p.Gln88His) rs2123715335
NM_001282225.2(ADA2):c.266C>T (p.Ala89Val) rs548766340
NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln) rs766367978
NM_001282225.2(ADA2):c.298A>T (p.Asn100Tyr)
NM_001282225.2(ADA2):c.307A>T (p.Arg103Trp) rs1232757006
NM_001282225.2(ADA2):c.308G>A (p.Arg103Lys) rs1477354791
NM_001282225.2(ADA2):c.317C>G (p.Pro106Arg)
NM_001282225.2(ADA2):c.329C>T (p.Ala110Val)
NM_001282225.2(ADA2):c.337C>A (p.Leu113Ile)
NM_001282225.2(ADA2):c.342T>G (p.His114Gln)
NM_001282225.2(ADA2):c.347T>C (p.Ile116Thr) rs2123709522
NM_001282225.2(ADA2):c.352A>C (p.Ile118Leu) rs2062364807
NM_001282225.2(ADA2):c.355G>A (p.Val119Met)
NM_001282225.2(ADA2):c.361A>G (p.Met121Val)
NM_001282225.2(ADA2):c.365A>T (p.Asp122Val)
NM_001282225.2(ADA2):c.370C>T (p.Leu124=) rs2123709418
NM_001282225.2(ADA2):c.397C>G (p.His133Asp) rs2062363420
NM_001282225.2(ADA2):c.3G>A (p.Met1Ile) rs2062397306
NM_001282225.2(ADA2):c.410G>C (p.Cys137Ser) rs1019680311
NM_001282225.2(ADA2):c.415A>G (p.Thr139Ala)
NM_001282225.2(ADA2):c.422G>A (p.Arg141Lys) rs756882787
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro) rs1437000359
NM_001282225.2(ADA2):c.446C>T (p.Ala149Val)
NM_001282225.2(ADA2):c.452C>T (p.Pro151Leu)
NM_001282225.2(ADA2):c.457C>T (p.Pro153Ser)
NM_001282225.2(ADA2):c.466T>C (p.Ser156Pro)
NM_001282225.2(ADA2):c.476G>A (p.Cys159Tyr) rs774636844
NM_001282225.2(ADA2):c.542+3G>A rs2123708613
NM_001282225.2(ADA2):c.542+4A>T
NM_001282225.2(ADA2):c.565G>T (p.Val189Leu)
NM_001282225.2(ADA2):c.580G>A (p.Glu194Lys)
NM_001282225.2(ADA2):c.608T>C (p.Val203Ala) rs1340031421
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.626C>A (p.Thr209Asn) rs781131295
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile) rs781131295
NM_001282225.2(ADA2):c.635T>C (p.Phe212Ser) rs1268480139
NM_001282225.2(ADA2):c.640A>G (p.Ile214Val)
NM_001282225.2(ADA2):c.643T>A (p.Ser215Thr)
NM_001282225.2(ADA2):c.662C>T (p.Ala221Val) rs2062318333
NM_001282225.2(ADA2):c.667G>C (p.Val223Leu) rs761537217
NM_001282225.2(ADA2):c.672C>A (p.Phe224Leu) rs2062317999
NM_001282225.2(ADA2):c.676G>A (p.Asp226Asn)
NM_001282225.2(ADA2):c.695T>C (p.Met232Thr) rs2123699502
NM_001282225.2(ADA2):c.713A>G (p.Asp238Gly)
NM_001282225.2(ADA2):c.718G>A (p.Val240Met) rs1239054063
NM_001282225.2(ADA2):c.724T>C (p.Tyr242His) rs1391989452
NM_001282225.2(ADA2):c.727A>G (p.Met243Val)
NM_001282225.2(ADA2):c.73G>A (p.Gly25Ser)
NM_001282225.2(ADA2):c.73G>T (p.Gly25Cys)
NM_001282225.2(ADA2):c.746T>G (p.Leu249Arg) rs757520466
NM_001282225.2(ADA2):c.758A>G (p.Tyr253Cys) rs1465951724
NM_001282225.2(ADA2):c.767G>A (p.Ser256Asn)
NM_001282225.2(ADA2):c.780T>G (p.His260Gln)
NM_001282225.2(ADA2):c.784G>A (p.Glu262Lys) rs551968547
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr) rs766768505
NM_001282225.2(ADA2):c.827T>C (p.Phe276Ser) rs2123651469
NM_001282225.2(ADA2):c.850A>C (p.Ile284Leu)
NM_001282225.2(ADA2):c.854G>A (p.Gly285Glu) rs2062117251
NM_001282225.2(ADA2):c.872C>T (p.Ser291Leu)
NM_001282225.2(ADA2):c.874G>A (p.Asp292Asn) rs2123651243
NM_001282225.2(ADA2):c.882-3C>G rs2062095551
NM_001282225.2(ADA2):c.884C>T (p.Ser295Phe)
NM_001282225.2(ADA2):c.898G>C (p.Val300Leu)
NM_001282225.2(ADA2):c.904G>A (p.Ala302Thr)
NM_001282225.2(ADA2):c.916C>G (p.Arg306Gly) rs774963498
NM_001282225.2(ADA2):c.91G>C (p.Asp31His) rs2123716097
NM_001282225.2(ADA2):c.926T>C (p.Met309Thr)
NM_001282225.2(ADA2):c.935G>C (p.Arg312Pro) rs746970158
NM_001282225.2(ADA2):c.946C>T (p.Pro316Ser)
NM_001282225.2(ADA2):c.961G>A (p.Gly321Arg)
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) rs865858930
NM_001282225.2(ADA2):c.967G>A (p.Asp323Asn) rs2123643865
NM_001282225.2(ADA2):c.972+6C>A rs764925030
NM_001282225.2(ADA2):c.973G>A (p.Val325Met)
NM_001282225.2(ADA2):c.977G>A (p.Gly326Glu) rs760228190
NM_001282225.2(ADA2):c.980A>C (p.His327Pro)
NM_001282225.2(ADA2):c.980A>G (p.His327Arg)
NM_001282225.2(ADA2):c.989C>G (p.Thr330Ser) rs2062065746
NM_001282225.2(ADA2):c.98C>T (p.Thr33Ile)

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