List of variants studied for autosomal recessive congenital cerebellar ataxia by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)	rs772697259	0.00008
NM_025114.4(CEP290):c.6277del (p.Val2093fs)	rs771454167	0.00002
NM_001134831.2(AHI1):c.2266+1G>A
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)	rs2038491713
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)	rs1846512047
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)	rs797044995
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)	rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs)	rs727502864

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