List of variants reported as likely pathogenic for autosomal recessive congenital cerebellar ataxia by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)	rs794729195
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)	rs1156904586
NM_018294.6(CWF19L1):c.187+1G>T	rs1330992740
NM_032856.5(WDR73):c.710dup (p.Gly238fs)	rs1282630153

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