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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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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.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	rs80338931	0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	rs80338934	0.00003
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)	rs80338923	0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)	rs80338925	0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)	rs758669363	0.00002
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)	rs1463859150	0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)	rs80338930	0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)	rs80338932	0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	rs759785462	0.00001
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)	rs1248359114	0.00001
NM_024577.4(SH3TC2):c.386-2A>C	rs145670786	0.00001
NM_024577.4(SH3TC2):c.1178-1G>A	rs80338922
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	rs1580901350
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)	rs863224454
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)	rs80338924
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)	rs1196218767
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)	rs1580900758
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)	rs1064797314
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)	rs1580900473
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)	rs2127402263
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)	rs80338929
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)	rs2127397072
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)	rs2127401458
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)	rs147895061
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)	rs80338936
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)	rs1222150652
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)	rs80338937
NM_024577.4(SH3TC2):c.3675+2dup	rs1554120215
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)	rs1754425628
NM_024577.4(SH3TC2):c.530-2A>G	rs80338920
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)	rs1580917136
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)	rs1580917130
NM_024577.4(SH3TC2):c.731+2T>G	rs2127400622
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)	rs879253859
NM_024577.4(SH3TC2):c.929dup (p.Ser312fs)	rs2127399983
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)	rs1580907885

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