ClinVar Miner

List of variants studied for intellectual disability-hypotonia-spasticity-sleep disorder syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.2129G>A (p.Gly710Glu)
NM_020987.5(ANK3):c.1069A>T (p.Asn357Tyr)
NM_020987.5(ANK3):c.1182T>A (p.Asn394Lys)

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