List of variants in gene ARHGEF9 reported as likely pathogenic for metabolic disease involving other neurotransmitter deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_62875364)_(62944601_?)del
NM_001353921.2(ARHGEF9):c.1078-3T>G	rs1409374479
NM_001353921.2(ARHGEF9):c.30+1G>A	rs2520345214
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)	rs1556401730
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)	rs1556401714
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)	rs2519903469
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)	rs2519844189
NM_001353921.2(ARHGEF9):c.509_510del (p.Val170fs)
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)	rs1556389083
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)	rs2519728924
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)	rs2519728710

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