ClinVar Miner

List of variants in gene MED25 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 19
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HGVS dbSNP
NM_030973.3(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.3(MED25):c.135-6T>G rs199743509
NM_030973.3(MED25):c.1677G>C (p.Met559Ile) rs369006637
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.247C>G (p.Gln83Glu) rs143148835
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.751G>A (p.Ala251Thr) rs775622130
NM_030973.3(MED25):c.908-3_908-2del rs766739944
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
NM_030973.4(MED25):c.249A>C (p.Gln83His)
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
NM_030973.4(MED25):c.807_809del (p.Pro270del)

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