List of variants reported as likely pathogenic for cerebellar ataxia by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile)	rs759221881	0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)	rs1304109530	0.00001
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter)	rs1579319300
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)	rs1060503431
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)	rs1593410369
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)	rs1589625941
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)	rs1553281318
NM_153816.6(SNX14):c.1725del (p.Phe575fs)	rs1311909367

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