ClinVar Miner

List of variants in gene ARHGEF9 reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_62875364)_(62944601_?)del
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.30+1G>A
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) rs2052539418
NM_001353921.2(ARHGEF9):c.402+1G>A rs2052538764
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)

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