ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001379029.1(CERT1):c.1335del (p.Ala446fs) rs1561223965
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) rs1422380205
NM_018489.3(ASH1L):c.1573G>C (p.Val525Leu) rs1570942566
NM_057175.5(NAA15):c.691+1G>A rs1579109565

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