ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant non-syndromic intellectual disability by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018489.3(ASH1L):c.2333G>A (p.Arg778Gln) rs373475579 0.00003
NM_001386298.1(CIC):c.998G>A (p.Arg333His) rs1283116229 0.00001
NM_018489.3(ASH1L):c.8156G>A (p.Arg2719His) rs375304383 0.00001
NM_001379029.1(CERT1):c.1301T>G (p.Val434Gly) rs375406284
NM_001386298.1(CIC):c.92G>A (p.Arg31Gln) rs1047691694
NM_002074.5(GNB1):c.34G>A (p.Glu12Lys) rs1570674859
NM_019842.4(KCNQ5):c.1501G>A (p.Asp501Asn) rs1582480404
NM_130797.4(DPP6):c.1388T>C (p.Ile463Thr) rs1554471895

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