List of variants in gene ARHGEF9 reported as uncertain significance 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: 138

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HGVS	dbSNP	gnomAD frequency
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)	rs782577519	0.00015
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His)	rs373001354	0.00003
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys)	rs782166488	0.00003
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val)	rs377326713	0.00002
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln)	rs782087438	0.00002
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val)	rs781938857	0.00002
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His)	rs1556347347	0.00001
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile)	rs1556347281	0.00001
NM_001353921.2(ARHGEF9):c.1078-3T>C	rs1409374479	0.00001
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln)	rs1556335112	0.00001
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu)	rs782206262	0.00001
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)	rs1365914320	0.00001
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)	rs1556301016	0.00001
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu)	rs1556402117	0.00001
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)	rs1556401755	0.00001
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)	rs782001294	0.00001
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg)	rs782145415	0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)	rs1394345886	0.00001
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys)	rs781955551	0.00001
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile)	rs1556415925	0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)	rs1384182085	0.00001
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)	rs782139620	0.00001
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His)	rs1556365349	0.00001
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn)	rs782266558	0.00001
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr)	rs1569491711	0.00001
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser)	rs1431530716	0.00001
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln)	rs782244025	0.00001
NC_000023.10:g.(?_62893898)_(63005025_?)dup
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys)	rs2147265726
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
NM_001353921.2(ARHGEF9):c.1077+5C>T	rs2049507995
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=)	rs1556347185
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)	rs2048830256
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg)	rs2048827604
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val)	rs2048826532
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser)	rs2147218280
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)	rs2048824581
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val)	rs2053845797
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)	rs1569441733
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
NM_001353921.2(ARHGEF9):c.1321+5G>T
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val)	rs2147143865
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu)	rs2147143845
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)	rs1602179094
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser)	rs2147114917
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly)
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)	rs1556301404
NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser)	rs2147114796
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro)	rs1556301359
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser)	rs2147114604
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp)	rs2053844904
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)	rs2147114173
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp)	rs2147114132
NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu)	rs1556300785
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter)	rs1556300769
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His)	rs1556300759
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu)	rs2047401810
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser)	rs2056441301
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His)	rs374489713
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val)	rs2147835608
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met)
NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg)
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser)	rs886044863
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
NM_001353921.2(ARHGEF9):c.30+16C>T
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
NM_001353921.2(ARHGEF9):c.31-29588A>G	rs2055839126
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del	rs782126971
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu)	rs2052542875
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met)	rs2053850779
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His)	rs868956996
NM_001353921.2(ARHGEF9):c.403-3C>T	rs1602447219
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe)	rs2051815541
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val)	rs2147450532
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser)	rs2051813469
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser)	rs2051812917
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly)	rs1556388997
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val)	rs2147334711
NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)	rs2050412325
NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro)
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=)	rs2147624503
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys)	rs2147334395
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu)	rs2050408893
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr)	rs782266558
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer)	rs2050407403
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr)
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His)
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro)	rs1602360899
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile)
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr)	rs2050403490
NM_001353921.2(ARHGEF9):c.815+5G>C	rs56239759
NM_001353921.2(ARHGEF9):c.815+5G>T	rs56239759
NM_001353921.2(ARHGEF9):c.816-9T>C	rs1057522347
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)	rs2050115619
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala)	rs2147307964
NM_001353921.2(ARHGEF9):c.945+5G>A
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)
NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile)	rs1569451962
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu)	rs1602300014

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