List of variants in gene TWNK reported as likely pathogenic for hereditary skeletal muscle disorder

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)	rs267606682	0.00001
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)	rs28937887
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr)	rs1554887028
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)	rs758026634
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)	rs111033573
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)	rs1554887097
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	rs111033574
NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys)	rs2133939892
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter)	rs1382829987
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)

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