List of variants reported as pathogenic for autosomal recessive congenital cerebellar ataxia by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	rs397514753	0.00005
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)	rs779823379	0.00002
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)	rs751734985	0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)	rs138358708	0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)	rs762607878	0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)	rs1304109530	0.00001
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)	rs1574587553
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)	rs121434348
NM_001134831.2(AHI1):c.2037-1G>C	rs1784918128
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)	rs863225146
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter)	rs770279237
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter)	rs1484029774
NM_001378615.1(CC2D2A):c.2339-2A>C	rs1719092280
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)	rs386833749
NM_001378615.1(CC2D2A):c.4437+1G>A	rs786205568

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