ClinVar Miner

List of variants in gene ARHGEF9 reported as pathogenic for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001330495.2(ARHGEF9):c.-158C>T rs397514460
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_015185.3(ARHGEF9):c.1285del (p.Glu429fs)
NM_015185.3(ARHGEF9):c.157G>T (p.Glu53Ter)
NM_015185.3(ARHGEF9):c.164G>C (p.Gly55Ala) rs121918361
NM_015185.3(ARHGEF9):c.865C>T (p.Arg289Ter) rs1135401795
NM_015185.3(ARHGEF9):c.901C>T (p.Gln301Ter) rs1569458475

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