List of variants reported as likely pathogenic for cerebellar disorder by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)	rs767584322	0.00003
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)	rs2093873570	0.00001
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)	rs867628133
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	rs766020802
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)	rs151344513
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)	rs1554986345
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)	rs1554986337
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)	rs1553238311
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)	rs1575415900
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs)	rs751637699

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