ClinVar Miner

List of variants studied for cerebellar dysfunction with variable cognitive and behavioral abnormalities by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) rs137974312 0.00106
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter) rs1576691273
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter) rs2149989087

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