List of variants reported as pathogenic for cerebellar dysfunction with variable cognitive and behavioral abnormalities by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000001.10:g.6882372_7422115dup
NC_000001.10:g.7119268_7200395del
NC_000001.9:g.6777038_6826186del
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)	rs2148504421
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)	rs2149303084
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)	rs1085307743
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)	rs1064796146
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)	rs886041999

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