ClinVar Miner

List of variants studied for syndromic intellectual disability by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) rs1753213218
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691

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