ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability-epilepsy syndrome by Neurogenetics Research Program, University of Adelaide

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser) rs1555985142
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His) rs748611349
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg) rs1928358562
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro) rs1928356260
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro) rs1928446616
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg) rs1928431321
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751

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