List of variants reported as pathogenic for autosomal recessive congenital cerebellar ataxia by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.665-11T>C	rs886039807
NM_001134831.2(AHI1):c.1326del (p.Val443fs)	rs1788834778
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)	rs886039809
NM_016464.5(TMEM138):c.377-3C>G	rs774110963
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)	rs886039808

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