ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4C by MGZ Medical Genetics Center

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Total variants: 3
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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.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.4(SH3TC2):c.805+2T>C rs139052887

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