List of variants in gene ARHGEF9 reported as pathogenic for complex neurodevelopmental disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)	rs869312941
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)	rs2048831313
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter)	rs2147218558
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs)	rs1602253296
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)	rs1602577529
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)	rs121918361
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)	rs1556401714
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter)	rs397514460
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)	rs1602446549
NM_001353921.2(ARHGEF9):c.582+1G>A	rs1569476483
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)	rs1135401795
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter)	rs1556358991
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)	rs1569458475
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter)	rs2147307979
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=)	rs2050112328
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs)	rs2147266023

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