ClinVar Miner

List of variants in gene MED25 studied for Charcot-Marie-Tooth disease

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_030973.4(MED25):c.-12A>G rs114843375 0.01532
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00598
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_030973.4(MED25):c.688+17G>A rs373952366 0.00188
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_030973.4(MED25):c.151C>T (p.Pro51Ser) rs147869920 0.00104
NM_030973.4(MED25):c.1374+9C>T rs574703435 0.00090
NM_030973.4(MED25):c.689-3C>T rs199623358 0.00047
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_030973.4(MED25):c.1677G>C (p.Met559Ile) rs369006637 0.00041
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_030973.4(MED25):c.1434G>A (p.Lys478=) rs181389801 0.00028
NM_030973.4(MED25):c.1062C>T (p.Ser354=) rs140345077 0.00026
NM_030973.4(MED25):c.134+20C>T rs372600662 0.00022
NM_030973.4(MED25):c.247C>G (p.Gln83Glu) rs143148835 0.00018
NM_030973.4(MED25):c.1747-19_1747-18del rs752695799 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) rs370994862 0.00013
NM_030973.4(MED25):c.1533C>T (p.Leu511=) rs376038328 0.00013
NM_030973.4(MED25):c.305+17T>G rs763308680 0.00013
NM_030973.4(MED25):c.689T>C (p.Val230Ala) rs199982073 0.00011
NM_030973.4(MED25):c.1377C>T (p.Thr459=) rs374928221 0.00010
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_030973.4(MED25):c.1572C>T (p.Gly524=) rs559482732 0.00005
NM_030973.4(MED25):c.2046G>A (p.Pro682=) rs755620011 0.00004
NM_030973.4(MED25):c.4G>C (p.Val2Leu) rs780512266 0.00004
NM_030973.4(MED25):c.1764G>A (p.Pro588=) rs758729127 0.00003
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) rs764017333 0.00003
NM_030973.4(MED25):c.125C>T (p.Pro42Leu) rs779085896 0.00002
NM_030973.4(MED25):c.2146+6G>A rs756773643 0.00002
NM_030973.4(MED25):c.557G>A (p.Arg186Gln) rs1376475717 0.00002
NM_030973.4(MED25):c.1044C>T (p.Ser348=) rs1292829714 0.00001
NM_030973.4(MED25):c.134+19A>G rs764885639 0.00001
NM_030973.4(MED25):c.1675-18C>T rs2074089100 0.00001
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) rs765135124 0.00001
NM_030973.4(MED25):c.413C>T (p.Thr138Met) rs200785685 0.00001
NM_030973.4(MED25):c.556C>T (p.Arg186Trp) rs776291104 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_030973.4(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.1102-11C>G rs1166792631
NM_030973.4(MED25):c.135-1G>A rs2073955922
NM_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708
NM_030973.4(MED25):c.1482+17G>A rs2074065045
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) rs964471885
NM_030973.4(MED25):c.1674+19C>T rs752522
NM_030973.4(MED25):c.168C>T (p.Asp56=) rs1469914664
NM_030973.4(MED25):c.186G>A (p.Gly62=) rs2073963607
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.4(MED25):c.1966-5C>T rs757221753
NM_030973.4(MED25):c.2037G>A (p.Leu679=) rs2074097615
NM_030973.4(MED25):c.2146+19G>T rs568964675
NM_030973.4(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.4(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.4(MED25):c.249A>C (p.Gln83His) rs1291395600
NM_030973.4(MED25):c.558G>A (p.Arg186=) rs761471297
NM_030973.4(MED25):c.580C>T (p.Leu194=) rs2074040770
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
NM_030973.4(MED25):c.807_809del (p.Pro270del) rs767980819
NM_030973.4(MED25):c.908-3_908-2del rs766739944

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