ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.2345_2346del (p.Asn782fs)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs) rs1553551705
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)
NM_001272071.2(AP1S2):c.367C>T (p.Gln123Ter)
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2368_2369delinsTTCT (p.Glu790fs)
NM_013275.6(ANKRD11):c.6360G>A (p.Trp2120Ter)
NM_014795.4(ZEB2):c.2915_2918dup (p.Met973fs)
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_052988.5(CDK10):c.608+1G>A rs771066826

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