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

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)	rs80338933	0.00067
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)	rs80338934	0.00003
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)	rs749850181	0.00001
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)	rs1580901350
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter)	rs1754094644
NM_024577.4(SH3TC2):c.2489_2492del (p.Glu830fs)	rs80338929
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)	rs1174949678
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)	rs370115218
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)	rs864622664
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)	rs1561770179
NM_024577.4(SH3TC2):c.688del (p.Val230fs)	rs775740308
NM_024577.4(SH3TC2):c.957del (p.Phe320fs)	rs1554122541

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