ClinVar Miner

List of variants studied for perceptual disorders by Molecular Genetics Lab, CHRU Brest

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001375524.1(TRRAP):c.2622+1G>A
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_005909.5(MAP1B):c.881del (p.Phe294fs)

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