ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4C by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_024577.4(SH3TC2):c.335C>T (p.Thr112Ile)

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