ClinVar Miner

List of variants in gene MED25 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 39
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HGVS dbSNP
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.1227A>G (p.Gln409=) rs769851706
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.151C>T (p.Pro51Ser) rs147869920
NM_030973.3(MED25):c.1572C>T (p.Gly524=) rs559482732
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.228C>T (p.Cys76=) rs770196362
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.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.819+14C>T rs188257265
NM_030973.3(MED25):c.93C>T (p.Tyr31=) rs61742955
NM_030973.4(MED25):c.1044C>T (p.Ser348=)
NM_030973.4(MED25):c.1102-11C>G
NM_030973.4(MED25):c.134+19A>G
NM_030973.4(MED25):c.134+20C>T
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.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.2146+19G>T
NM_030973.4(MED25):c.2146+6G>A
NM_030973.4(MED25):c.305+17T>G
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

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