ClinVar Miner

List of variants in gene ARHGEF9 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq11.1(chrX:62893918-62898452)x1
NM_001353921.2(ARHGEF9):c.1078-1G>A rs2048833496
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.72G>A (p.Trp24Ter)
NM_001353921.2(ARHGEF9):c.946-8_949delinsATCCTAGAC rs2147266291

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