List of variants in gene TWNK reported as likely pathogenic for mitochondrial DNA depletion syndrome

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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.1523A>G (p.Tyr508Cys)	rs80356540	0.00028
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)	rs386834146	0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)	rs374997012	0.00001
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)	rs781016340
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys)	rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)	rs386834145
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)	rs111033574
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)	rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln)	rs753386843
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)	rs386834147

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