ClinVar Miner

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

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_030973.3(MED25):c.-12A>G rs114843375
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_030973.3(MED25):c.1062C>T (p.Ser354=) rs140345077
NM_030973.3(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.3(MED25):c.1227A>G (p.Gln409=) rs769851706
NM_030973.3(MED25):c.135-6T>G rs199743509
NM_030973.3(MED25):c.1374+9C>T rs574703435
NM_030973.3(MED25):c.1377C>T (p.Thr459=) rs374928221
NM_030973.3(MED25):c.1434G>A (p.Lys478=) rs181389801
NM_030973.3(MED25):c.1438C>G (p.Leu480Val) rs148214958
NM_030973.3(MED25):c.1482+19G>A rs4802632
NM_030973.3(MED25):c.1483-7C>T rs2017698
NM_030973.3(MED25):c.151C>T (p.Pro51Ser) rs147869920
NM_030973.3(MED25):c.1572C>T (p.Gly524=) rs559482732
NM_030973.3(MED25):c.165G>A (p.Thr55=) rs77400039
NM_030973.3(MED25):c.1674+19C>T rs752522
NM_030973.3(MED25):c.1677G>C (p.Met559Ile) rs369006637
NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) rs193291405
NM_030973.3(MED25):c.1794C>T (p.Ala598=) rs185100172
NM_030973.3(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.3(MED25):c.1966C>A (p.Pro656Thr) rs199761611
NM_030973.3(MED25):c.2031G>A (p.Ala677=) rs57854058
NM_030973.3(MED25):c.2046G>A (p.Pro682=) rs755620011
NM_030973.3(MED25):c.2056C>T (p.Leu686=) rs201969940
NM_030973.3(MED25):c.2088G>A (p.Leu696=) rs371157406
NM_030973.3(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.3(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.3(MED25):c.247C>G (p.Gln83Glu) rs143148835
NM_030973.3(MED25):c.316G>A (p.Gly106Arg) rs535472885
NM_030973.3(MED25):c.354C>T (p.Leu118=) rs145574885
NM_030973.3(MED25):c.396C>T (p.Arg132=) rs142353864
NM_030973.3(MED25):c.4G>C (p.Val2Leu) rs780512266
NM_030973.3(MED25):c.556C>T (p.Arg186Trp) rs776291104
NM_030973.3(MED25):c.597C>A (p.Ala199=) rs149788020
NM_030973.3(MED25):c.664C>T (p.Leu222=) rs147538736
NM_030973.3(MED25):c.689-3C>T rs199623358
NM_030973.3(MED25):c.689T>C (p.Val230Ala) rs199982073
NM_030973.3(MED25):c.751G>A (p.Ala251Thr) rs775622130
NM_030973.3(MED25):c.819+14C>T rs188257265
NM_030973.3(MED25):c.908-3_908-2del rs766739944
NM_030973.3(MED25):c.93C>T (p.Tyr31=) rs61742955
NM_030973.4(MED25):c.1044C>T (p.Ser348=)
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
NM_030973.4(MED25):c.1101+24_1101+42dup
NM_030973.4(MED25):c.1102-11C>G
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
NM_030973.4(MED25):c.134+19A>G
NM_030973.4(MED25):c.134+20C>T
NM_030973.4(MED25):c.135-1G>A
NM_030973.4(MED25):c.1369C>T (p.Leu457=)
NM_030973.4(MED25):c.1482+17G>A
NM_030973.4(MED25):c.1533C>T (p.Leu511=)
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
NM_030973.4(MED25):c.1675-18C>T
NM_030973.4(MED25):c.168C>T (p.Asp56=)
NM_030973.4(MED25):c.1747-19_1747-18del
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
NM_030973.4(MED25):c.186G>A (p.Gly62=)
NM_030973.4(MED25):c.1966-5C>T
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
NM_030973.4(MED25):c.2146+19G>T
NM_030973.4(MED25):c.2146+6G>A
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
NM_030973.4(MED25):c.249A>C (p.Gln83His)
NM_030973.4(MED25):c.305+17T>G
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
NM_030973.4(MED25):c.558G>A (p.Arg186=)
NM_030973.4(MED25):c.580C>T (p.Leu194=)
NM_030973.4(MED25):c.688+17G>A
NM_030973.4(MED25):c.807_809del (p.Pro270del)
NM_030973.4(MED25):c.949G>T (p.Gly317Cys)

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