List of variants studied for Charcot-Marie-Tooth disease type 4C by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)	rs146920285	0.00306
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	rs80338932	0.00001
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)	rs1580900473
NM_024577.4(SH3TC2):c.731+2T>G	rs2127400622
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)	rs1580907885

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