ClinVar Miner

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

Included ClinVar conditions (134):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NC_000004.11:g.(?_154125663)_(154197302_?)del
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser) rs752113810
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met) rs756377335
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=) rs779795369
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp)
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys)
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu)
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.1518A>G (p.Lys506=)
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser) rs374300347
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His)
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His)
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=)
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) rs1305793582
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln)
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=) rs756285274
NM_015271.5(TRIM2):c.1781del (p.Lys594fs) rs587777838
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val)
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) rs114415780
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser)
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)
NM_015271.5(TRIM2):c.210C>T (p.Cys70=)
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser)
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=) rs763024851
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) rs745985238
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val)
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val)
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn)
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.520G>A (p.Ala174Thr)
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe)
NM_015271.5(TRIM2):c.550G>A (p.Val184Met)
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg)
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) rs759938444
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.870C>T (p.Asn290=) rs35333794
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn)
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu)

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