List of variants in gene TWNK reported as likely pathogenic by GeneDx

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: 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.1196A>G (p.Asn399Ser)	rs863223921	0.00001
NM_021830.5(TWNK):c.1229T>G (p.Leu410Arg)	rs749345054	0.00001
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter)	rs863223919	0.00001
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr)	rs1554887028
NM_021830.5(TWNK):c.1033G>T (p.Ala345Ser)	rs1554887046
NM_021830.5(TWNK):c.1183T>C (p.Phe395Leu)	rs1440229445
NM_021830.5(TWNK):c.1364T>C (p.Met455Thr)	rs1554887207
NM_021830.5(TWNK):c.1435G>A (p.Glu479Lys)	rs1085307937
NM_021830.5(TWNK):c.198dup (p.His67fs)	rs1554886713
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp)	rs1159929268

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