List of variants studied for cerebellar dysfunction with variable cognitive and behavioral abnormalities by Genome-Nilou Lab

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015215.4(CAMTA1):c.4884-121A>G	rs9919223	0.70554
NM_015215.4(CAMTA1):c.4690-44A>G	rs10779689	0.68442
NM_015215.4(CAMTA1):c.4689+56A>G	rs12133253	0.67987
NM_015215.4(CAMTA1):c.3658+104T>A	rs1417986	0.62264
NM_015215.4(CAMTA1):c.2914+6A>G	rs3011926	0.55715
NM_015215.4(CAMTA1):c.510+35T>C	rs1201529	0.55695
NM_015215.4(CAMTA1):c.234+62447C>T	rs3810982	0.18255
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys)	rs41278952	0.09746
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)	rs12128526

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