List of variants in gene SH3TC2 reported as likely pathogenic for Charcot-Marie-Tooth disease type 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)	rs750529207	0.00001
NM_024577.4(SH3TC2):c.279+1G>A	rs1198337036	0.00001
NM_024577.4(SH3TC2):c.529+1G>A	rs769410348	0.00001
NM_024577.4(SH3TC2):c.806-2A>G	rs1041389207	0.00001
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)	rs863224781
NM_024577.4(SH3TC2):c.280-2A>G	rs1561770798
NM_024577.4(SH3TC2):c.3054-2A>C	rs1580891465
NM_024577.4(SH3TC2):c.3054-2A>G
NM_024577.4(SH3TC2):c.3205-2A>G	rs2127392891
NM_024577.4(SH3TC2):c.3478+2T>G	rs2127392445
NM_024577.4(SH3TC2):c.385+1G>T	rs2127401413
NM_024577.4(SH3TC2):c.385+2T>C	rs773554464
NM_024577.4(SH3TC2):c.53-2A>G	rs2127403412
NM_024577.4(SH3TC2):c.806-1G>A	rs1554122560
NM_024577.4(SH3TC2):c.896G>C (p.Gly299Ala)	rs1222332332

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