ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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 0.68851
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.1350G>A (p.Ser450=) rs12128526
NM_015215.4(CAMTA1):c.234+62447C>T

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