List of variants in gene TWNK reported as benign for ocular motility disease

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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: 29

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HGVS	dbSNP	gnomAD frequency
NM_021830.5(TWNK):c.-605G>T	rs3740484	0.35155
NM_021830.5(TWNK):c.*766A>T	rs3740488	0.28823
NM_021830.5(TWNK):c.1593-5C>T	rs3740485	0.28642
NM_021830.5(TWNK):c.1593-3T>C	rs3740486	0.28631
NM_021830.5(TWNK):c.*521C>G	rs11542131	0.08029
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)	rs17113613	0.04615
NM_021830.5(TWNK):c.*204G>A	rs61871507	0.01328
NM_021830.5(TWNK):c.*455C>T	rs148810959	0.00460
NM_021830.5(TWNK):c.-650A>G	rs187213541	0.00454
NM_021830.5(TWNK):c.*301C>T	rs41291468	0.00264
NM_021830.5(TWNK):c.*419A>T	rs187553791	0.00223
NM_021830.5(TWNK):c.639C>T (p.Gly213=)	rs11542130	0.00135
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)	rs116046810	0.00126
NM_021830.5(TWNK):c.1735-14C>A	rs201795189	0.00121
NM_021830.5(TWNK):c.384C>T (p.Ser128=)	rs148234280	0.00045
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)	rs577209883	0.00041
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)	rs145068570	0.00033
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)	rs62626272	0.00028
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)	rs62626271	0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)	rs144001072	0.00021
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)	rs200798080	0.00015
NM_021830.5(TWNK):c.-290G>C	rs62626270	0.00013
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)	rs370814108	0.00006
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)	rs771310512	0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=)	rs368863664	0.00004
NM_021830.5(TWNK):c.492C>T (p.Leu164=)	rs775463083	0.00003
NM_021830.5(TWNK):c.1244-14C>T	rs758757135	0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)	rs549767223	0.00001
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)	rs182559752

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