List of variants in gene TWNK studied for Perrault syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.-592C>T	rs774214514	0.00026
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)	rs751144474	0.00008
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	rs370814108	0.00006
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)	rs139124415	0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe)	rs775046032	0.00004
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)	rs141315771	0.00003
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)	rs556445621	0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)	rs863223921	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.737A>G (p.Asn246Ser)	rs754081544	0.00001
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	rs111033574
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)	rs764669712
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr)	rs759603316
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)

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