ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062

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