List of variants reported as benign for cerebellar dysfunction with variable cognitive and behavioral abnormalities

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Total variants: 16

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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	0.68851
NM_015215.4(CAMTA1):c.4689+56A>G	rs12133253	0.67987
NM_015215.4(CAMTA1):c.3658+104T>A	rs1417986	0.62279
NM_015215.4(CAMTA1):c.510+35T>C	rs1201529	0.56733
NM_015215.4(CAMTA1):c.2914+6A>G	rs3011926	0.55520
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys)	rs41278952	0.09746
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr)	rs41278954	0.00753
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)	rs6674962	0.00613
NM_015215.4(CAMTA1):c.234+5A>T	rs547105933	0.00001
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)	rs12128526
NM_015215.4(CAMTA1):c.234+62447C>T
NM_015215.4(CAMTA1):c.2780-8G>A
NM_015215.4(CAMTA1):c.3655C>G (p.Pro1219Ala)
NM_015215.4(CAMTA1):c.927G>A (p.Ser309=)
Single allele

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