List of variants in gene SH3TC2 reported as not provided 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: 15

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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.3325C>T (p.Arg1109Ter)	rs80338934	0.00004
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)	rs80338926	0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)	rs80338931	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.2829T>G (p.Tyr943Ter)	rs80338932	0.00001
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)	rs80338924
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)	rs878855092
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)	rs80338929
NM_024577.4(SH3TC2):c.28del (p.Glu10fs)	rs80338918
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)	rs80338936
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)	rs80338937
NM_024577.4(SH3TC2):c.530-2A>G	rs80338920

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