ClinVar Miner

List of variants studied for X-linked intellectual disability-epilepsy syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter) rs796052813
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.971del (p.Asn324fs) rs1569315169
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) rs1556401730

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