ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4C by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter) rs1248359114 0.00001

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