List of variants in gene SNX14 reported as pathogenic for Autosomal recessive spinocerebellar ataxia 20

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)	rs201128942	0.00004
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)	rs760752847	0.00002
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter)	rs786205229	0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)	rs1171657935	0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)	rs774694340	0.00001
NM_153816.2(SNX14):c.1108+1181_2108-2342del
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)	rs201128942
NM_153816.6(SNX14):c.1608+1G>T	rs749656742
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)	rs1057519561
NM_153816.6(SNX14):c.1878del (p.Lys626fs)
NM_153816.6(SNX14):c.1894+1G>T	rs876657386
NM_153816.6(SNX14):c.2148+1G>T
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter)	rs876657385
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter)	rs876657387
NM_153816.6(SNX14):c.645dup (p.Glu216fs)	rs869320748

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