List of variants in gene TWNK reported as pathogenic for reproductive system disorder

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)	rs556445621	0.00001
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly)	rs672601361	0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)	rs369588002	0.00001
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser)	rs672601360	0.00001
NM_021830.5(TWNK):c.478C>T (p.Arg160Ter)	rs1851660058
NM_021830.5(TWNK):c.742_745del (p.Phe248fs)
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr)	rs759603316

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