ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NC_000019.9:g.(?_42785739)_(42791254_?)del
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
NM_001348323.3(TRIP12):c.638_639del (p.Arg213fs)
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_005121.3(MED13):c.1036dup (p.Val346fs) rs2143672313
NM_005862.3(STAG1):c.2557dup (p.Glu853fs) rs1560062082
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter) rs869312841
NM_018489.3(ASH1L):c.1959del (p.Lys653fs)
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)

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