ClinVar Miner

List of variants studied for X-linked intellectual disability-epilepsy syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001330495.2(ARHGEF9):c.-158C>T rs397514460
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_015185.3(ARHGEF9):c.164G>C (p.Gly55Ala) rs121918361
PCDH19, 5-BP DUP, NT1036

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