ClinVar Miner

List of variants in gene TRIM2 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NC_000004.12:g.(?_153204511)_(153276150_?)del
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=) rs115515921
NM_015271.5(TRIM2):c.1028G>C (p.Gly343Ala)
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser) rs752113810
NM_015271.5(TRIM2):c.1050C>T (p.Ala350=) rs1433209136
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met) rs756377335
NM_015271.5(TRIM2):c.1074G>A (p.Thr358=) rs145538082
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=) rs116558260
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=) rs779795369
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp) rs768541205
NM_015271.5(TRIM2):c.1093A>C (p.Thr365Pro)
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=) rs116472166
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys) rs760086023
NM_015271.5(TRIM2):c.1161C>T (p.Thr387=) rs144994337
NM_015271.5(TRIM2):c.1166A>G (p.Asn389Ser)
NM_015271.5(TRIM2):c.1179C>T (p.Thr393=) rs376619155
NM_015271.5(TRIM2):c.1180G>A (p.Ala394Thr)
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=) rs770558554
NM_015271.5(TRIM2):c.121C>T (p.Arg41Cys)
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057
NM_015271.5(TRIM2):c.1232A>G (p.Asn411Ser)
NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala)
NM_015271.5(TRIM2):c.1319G>A (p.Arg440Gln)
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu) rs1579436975
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln) rs777541972
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu) rs147859999
NM_015271.5(TRIM2):c.1411G>A (p.Gly471Ser)
NM_015271.5(TRIM2):c.1434G>T (p.Val478=) rs751706975
NM_015271.5(TRIM2):c.1445C>G (p.Ala482Gly)
NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys)
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1615A>T (p.Ile539Leu)
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser) rs374300347
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His) rs1579646798
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His) rs755651013
NM_015271.5(TRIM2):c.1670C>T (p.Pro557Leu)
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=) rs150231451
NM_015271.5(TRIM2):c.1671G>T (p.Pro557=) rs150231451
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) rs1305793582
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln) rs1418080739
NM_015271.5(TRIM2):c.1698G>A (p.Val566=) rs747022098
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=) rs756285274
NM_015271.5(TRIM2):c.1746A>G (p.Lys582=)
NM_015271.5(TRIM2):c.1781del (p.Lys594fs) rs587777838
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val) rs780090814
NM_015271.5(TRIM2):c.1834C>T (p.Arg612Cys)
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) rs114415780
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser) rs1579720652
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val) rs1561013892
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met) rs759524701
NM_015271.5(TRIM2):c.189C>T (p.Leu63=) rs558845725
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu) rs1554002777
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val) rs140853898
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile) rs1579783522
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=) rs138490175
NM_015271.5(TRIM2):c.2085G>A (p.Gln695=) rs141479735
NM_015271.5(TRIM2):c.210C>T (p.Cys70=) rs750120043
NM_015271.5(TRIM2):c.2139C>T (p.Ala713=) rs773958934
NM_015271.5(TRIM2):c.2169T>C (p.Phe723=) rs148412849
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser) rs199912457
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=) rs763024851
NM_015271.5(TRIM2):c.2265G>A (p.Val755=)
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) rs745985238
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val) rs1579254686
NM_015271.5(TRIM2):c.320A>G (p.Asn107Ser)
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val) rs1435917917
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056
NM_015271.5(TRIM2):c.367A>T (p.Ser123Cys)
NM_015271.5(TRIM2):c.388A>G (p.Ile130Val)
NM_015271.5(TRIM2):c.415G>C (p.Ala139Pro)
NM_015271.5(TRIM2):c.417G>A (p.Ala139=)
NM_015271.5(TRIM2):c.444C>T (p.His148=) rs771241708
NM_015271.5(TRIM2):c.461A>G (p.Glu154Gly)
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn) rs1579407719
NM_015271.5(TRIM2):c.497G>A (p.Arg166Gln) rs146252965
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala) rs1553992552
NM_015271.5(TRIM2):c.519C>T (p.His173=) rs114900176
NM_015271.5(TRIM2):c.520G>A (p.Ala174Thr) rs200706275
NM_015271.5(TRIM2):c.520G>T (p.Ala174Ser)
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe) rs754986666
NM_015271.5(TRIM2):c.550G>A (p.Val184Met) rs1579408437
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg) rs1579408472
NM_015271.5(TRIM2):c.561G>T (p.Gln187His)
NM_015271.5(TRIM2):c.568G>A (p.Ala190Thr)
NM_015271.5(TRIM2):c.605+10C>A rs891133657
NM_015271.5(TRIM2):c.605+6G>A
NM_015271.5(TRIM2):c.605+9C>A rs532381432
NM_015271.5(TRIM2):c.653A>G (p.His218Arg)
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) rs759938444
NM_015271.5(TRIM2):c.673G>T (p.Ala225Ser)
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) rs143032564
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr) rs1560963959
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) rs138228404
NM_015271.5(TRIM2):c.761A>T (p.Glu254Val) rs587777063
NM_015271.5(TRIM2):c.786+10G>A rs1268924136
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter) rs746386202
NM_015271.5(TRIM2):c.816C>T (p.Leu272=) rs149607572
NM_015271.5(TRIM2):c.822G>T (p.Gly274=)
NM_015271.5(TRIM2):c.830G>A (p.Ser277Asn)
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_015271.5(TRIM2):c.879G>A (p.Thr293=) rs115191942
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn) rs1579432032
NM_015271.5(TRIM2):c.916G>C (p.Glu306Gln) rs750001904
NM_015271.5(TRIM2):c.927C>T (p.Asn309=) rs142242737
NM_015271.5(TRIM2):c.928G>A (p.Glu310Lys)
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu) rs1279083060
NM_015271.5(TRIM2):c.969C>T (p.Asn323=) rs116365246

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