List of variants studied for cerebellar degeneration by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)	rs2093873570	0.00001
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)	rs867628133
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_014687.4(RUBCN):c.1553dup (p.Glu519fs)
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)	rs1641438649
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)	rs1553238311
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)

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