ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, type 4C by Baylor Genetics

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Total variants: 11
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NM_024577.3(SH3TC2):c.2128C>T (p.Gln710Ter) rs753287764
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.794C>T (p.Ser265Phe) rs149873249
NM_024577.4(SH3TC2):c.2127G>A (p.Trp709Ter)
NM_024577.4(SH3TC2):c.2769del (p.Leu924fs)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3213C>T (p.Ile1071=)
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_024577.4(SH3TC2):c.3804C>T (p.Ser1268=)
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg)

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