ClinVar Miner

List of variants in gene ADAMTSL2 reported as uncertain significance for geleophysic dysplasia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_014694.4(ADAMTSL2):c.2436C>T (p.Arg812=) rs61733946 0.07271
NM_014694.4(ADAMTSL2):c.2325C>G (p.Ser775=) rs2301606 0.03001
NM_014694.4(ADAMTSL2):c.2416-9C>T rs111906016 0.02249
NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=) rs886063644 0.01990
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser) rs752071055 0.01748
NM_014694.4(ADAMTSL2):c.*595G>A rs538282848 0.01292
NM_014694.4(ADAMTSL2):c.*424G>T rs1036483978 0.01060
NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=) rs368922820 0.01033
NM_014694.4(ADAMTSL2):c.*287C>A rs868340954 0.00843
NM_014694.4(ADAMTSL2):c.2089-4C>A rs368200205 0.00799
NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=) rs369366346 0.00796
NM_014694.4(ADAMTSL2):c.1557C>T (p.Ser519=) rs62637565 0.00763
NM_014694.4(ADAMTSL2):c.*483A>C rs1050057510 0.00338
NM_014694.4(ADAMTSL2):c.2007C>T (p.Ala669=) rs372073271 0.00293
NM_014694.4(ADAMTSL2):c.*610G>A rs746098742 0.00228
NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln) rs553955759 0.00145
NM_014694.4(ADAMTSL2):c.*242C>T rs372143951 0.00139
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile) rs145897018 0.00129
NM_014694.4(ADAMTSL2):c.2592+13C>T rs562213175 0.00115
NM_014694.4(ADAMTSL2):c.1222G>A (p.Glu408Lys) rs757873971 0.00088
NM_014694.4(ADAMTSL2):c.690T>C (p.Ser230=) rs142777315 0.00087
NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser) rs948210454 0.00073
NM_014694.4(ADAMTSL2):c.*496C>T rs865954704 0.00056
NM_014694.4(ADAMTSL2):c.*622C>G rs886063655 0.00042
NM_014694.4(ADAMTSL2):c.1911C>T (p.Thr637=) rs891412360 0.00040
NM_014694.4(ADAMTSL2):c.1006G>A (p.Glu336Lys) rs753606710 0.00037
NM_014694.4(ADAMTSL2):c.1590A>G (p.Pro530=) rs886063643 0.00034
NM_014694.4(ADAMTSL2):c.682+13G>A rs368262959 0.00032
NM_014694.4(ADAMTSL2):c.1320C>T (p.Asp440=) rs113136530 0.00031
NM_014694.4(ADAMTSL2):c.2533G>A (p.Glu845Lys) rs199711623 0.00031
NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=) rs191009072 0.00028
NM_014694.4(ADAMTSL2):c.1283A>G (p.Asn428Ser) rs760679391 0.00027
NM_014694.4(ADAMTSL2):c.2469G>A (p.Glu823=) rs987965913 0.00027
NM_014694.4(ADAMTSL2):c.*609C>T rs886063654 0.00024
NM_014694.4(ADAMTSL2):c.1113C>T (p.Tyr371=) rs1044402763 0.00022
NM_014694.4(ADAMTSL2):c.*129G>A rs758945328 0.00018
NM_014694.4(ADAMTSL2):c.1477G>A (p.Glu493Lys) rs886063642 0.00018
NM_014694.4(ADAMTSL2):c.1198G>A (p.Gly400Ser) rs886063639 0.00014
NM_014694.4(ADAMTSL2):c.885C>T (p.Thr295=) rs772868128 0.00012
NM_014694.4(ADAMTSL2):c.1137G>A (p.Leu379=) rs1052592021 0.00009
NM_014694.4(ADAMTSL2):c.1257C>T (p.Pro419=) rs1476263916 0.00009
NM_014694.4(ADAMTSL2):c.412+10G>A rs375029785 0.00009
NM_014694.4(ADAMTSL2):c.798C>T (p.Asn266=) rs370348176 0.00009
NM_014694.4(ADAMTSL2):c.987G>A (p.Thr329=) rs932262126 0.00009
NM_014694.4(ADAMTSL2):c.1095G>A (p.Pro365=) rs776340163 0.00008
NM_014694.4(ADAMTSL2):c.1068C>T (p.Asp356=) rs1026897116 0.00007
NM_014694.4(ADAMTSL2):c.651G>A (p.Thr217=) rs148191166 0.00007
NM_014694.4(ADAMTSL2):c.1274G>A (p.Arg425Gln) rs757684437 0.00006
NM_014694.4(ADAMTSL2):c.1626C>T (p.Ala542=) rs985213789 0.00006
NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=) rs372783597 0.00006
NM_014694.4(ADAMTSL2):c.999G>A (p.Pro333=) rs766276641 0.00006
NM_014694.4(ADAMTSL2):c.*632A>G rs945241182 0.00005
NM_014694.4(ADAMTSL2):c.*566G>A rs886063652 0.00004
NM_014694.4(ADAMTSL2):c.1151G>A (p.Arg384Gln) rs1453028193 0.00004
NM_014694.4(ADAMTSL2):c.2089-10G>A rs886063645 0.00004
NM_014694.4(ADAMTSL2):c.2532C>T (p.Pro844=) rs997286816 0.00004
NM_014694.4(ADAMTSL2):c.258G>C (p.Gly86=) rs376297294 0.00004
NM_014694.4(ADAMTSL2):c.2631C>T (p.Asp877=) rs901152873 0.00004
NM_014694.4(ADAMTSL2):c.2689G>A (p.Val897Ile) rs886063649 0.00004
NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu) rs969732840 0.00004
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) rs764516811 0.00004
NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=) rs777495910 0.00003
NM_014694.4(ADAMTSL2):c.325G>A (p.Gly109Arg) rs199663387 0.00003
NM_014694.4(ADAMTSL2):c.708G>A (p.Pro236=) rs146958778 0.00003
NM_014694.4(ADAMTSL2):c.912G>A (p.Gly304=) rs758446604 0.00003
NM_014694.4(ADAMTSL2):c.979G>A (p.Glu327Lys) rs996554992 0.00003
NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys) rs983037163 0.00002
NM_014694.4(ADAMTSL2):c.1276+5C>G rs886063640 0.00002
NM_014694.4(ADAMTSL2):c.1719C>T (p.His573=) rs982225900 0.00002
NM_014694.4(ADAMTSL2):c.2551G>A (p.Glu851Lys) rs953137105 0.00002
NM_014694.4(ADAMTSL2):c.2799C>T (p.Cys933=) rs936095569 0.00002
NM_014694.4(ADAMTSL2):c.*280C>A rs886063650 0.00001
NM_014694.4(ADAMTSL2):c.*331G>A rs1404663146 0.00001
NM_014694.4(ADAMTSL2):c.*577G>A rs886063653 0.00001
NM_014694.4(ADAMTSL2):c.*635G>T rs886063656 0.00001
NM_014694.4(ADAMTSL2):c.-147C>G rs199857142 0.00001
NM_014694.4(ADAMTSL2):c.1242C>A (p.Ala414=) rs199582731 0.00001
NM_014694.4(ADAMTSL2):c.1764C>T (p.Tyr588=) rs986247139 0.00001
NM_014694.4(ADAMTSL2):c.286C>T (p.Arg96Trp) rs377040554 0.00001
NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp) rs776178041 0.00001
NM_014694.4(ADAMTSL2):c.541G>A (p.Val181Met) rs780731869 0.00001
NM_014694.4(ADAMTSL2):c.565G>A (p.Gly189Ser) rs751365777 0.00001
NM_014694.4(ADAMTSL2):c.751G>A (p.Ala251Thr) rs774653225 0.00001
NM_014694.4(ADAMTSL2):c.763+7A>G rs776668079 0.00001
NM_014694.4(ADAMTSL2):c.81C>T (p.Thr27=) rs776273406 0.00001
NM_014694.4(ADAMTSL2):c.954C>T (p.Asn318=) rs886063638 0.00001
NM_014694.4(ADAMTSL2):c.*291C>T rs1588315349
NM_014694.4(ADAMTSL2):c.*304C>G rs1831200986
NM_014694.4(ADAMTSL2):c.*490C>T rs886063651
NM_014694.4(ADAMTSL2):c.*98C>T rs1831194918
NM_014694.4(ADAMTSL2):c.-90G>C rs1830058692
NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln) rs538276028
NM_014694.4(ADAMTSL2):c.1074C>T (p.Ala358=) rs370480318
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) rs200378599
NM_014694.4(ADAMTSL2):c.1280G>A (p.Arg427His) rs540447841
NM_014694.4(ADAMTSL2):c.1321G>A (p.Glu441Lys)
NM_014694.4(ADAMTSL2):c.1355TCT[1] (p.Phe453del) rs886063641
NM_014694.4(ADAMTSL2):c.1623G>A (p.Ser541=) rs1170756141
NM_014694.4(ADAMTSL2):c.1713G>A (p.Ser571=) rs971630043
NM_014694.4(ADAMTSL2):c.1936G>A (p.Val646Ile) rs1831024149
NM_014694.4(ADAMTSL2):c.2089-7G>A rs1426097159
NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=) rs11542920
NM_014694.4(ADAMTSL2):c.2245T>C (p.Cys749Arg)
NM_014694.4(ADAMTSL2):c.2506G>A (p.Glu836Lys) rs886063646
NM_014694.4(ADAMTSL2):c.2512G>A (p.Gly838Arg) rs886063647
NM_014694.4(ADAMTSL2):c.2518G>C (p.Ala840Pro) rs886063648
NM_014694.4(ADAMTSL2):c.2597C>T (p.Thr866Ile) rs1831166200
NM_014694.4(ADAMTSL2):c.2653G>A (p.Asp885Asn) rs561084765
NM_014694.4(ADAMTSL2):c.2737+13G>A rs930552062
NM_014694.4(ADAMTSL2):c.2839A>G (p.Arg947Gly) rs1389223791
NM_014694.4(ADAMTSL2):c.2849A>G (p.His950Arg) rs1831191982
NM_014694.4(ADAMTSL2):c.392A>G (p.Gln131Arg) rs761328410
NM_014694.4(ADAMTSL2):c.682+10A>G rs199776835
NM_014694.4(ADAMTSL2):c.707C>T (p.Pro236Leu)
NM_014694.4(ADAMTSL2):c.725T>A (p.Ile242Asn) rs2131111768
NM_014694.4(ADAMTSL2):c.804C>T (p.Asn268=) rs1830367278
NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met) rs1830368432

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