ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2T; Spinocerebellar ataxia 43 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_007289.4(MME):c.1255A>C (p.Met419Leu) rs34931605 0.00413
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_007289.4(MME):c.346G>A (p.Val116Ile) rs745499234 0.00002
NM_007289.4(MME):c.187A>C (p.Ile63Leu)
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057

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