ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000965.5(RARB):c.638T>C (p.Leu213Pro) rs869025222
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg) rs2147230302
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro) rs2063911698
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001429.4(EP300):c.4879C>T (p.Arg1627Trp)
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro) rs1064796457
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) rs2051858361
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) rs1783105291
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_052988.5(CDK10):c.299_300dup (p.Leu101fs) rs2151576627

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