ClinVar Miner

List of variants in gene MME studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NG_051105.1:g.97438T>A rs1057519024
NG_051105.1:g.97864G>A rs1057519023
NG_051105.1:g.99621A>G rs765591205
NM_000902.3(MME):c.1265C>A (p.Ala422Asp) rs777476150
NM_000902.3(MME):c.1269delG (p.Arg425Glyfs) rs1060499935
NM_000902.3(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.3(MME):c.1904G>A (p.Gly635Asp) rs151302020
NM_000902.3(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_000902.3(MME):c.71G>A (p.Trp24Ter) rs886039755
NM_007287.2(MME):c.1666C>T (p.Pro556Ser)
NM_007287.2(MME):c.1972G>A (p.Ala658Thr)
NM_007289.2(MME):c.467delC (p.Pro156Leufs) rs749320057

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