ClinVar Miner

List of variants in gene ARHGEF9 reported as likely benign for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891 0.00125
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542 0.00054
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) rs56182751 0.00016
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=) rs199625034 0.00016
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=) rs782580975 0.00015
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) rs782248986 0.00009
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=) rs782354481 0.00009
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) rs145815177 0.00009
NM_001353921.2(ARHGEF9):c.31-29583C>A rs370045250 0.00009
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=) rs1413001108 0.00007
NM_001353921.2(ARHGEF9):c.402+7A>T rs373304318 0.00007
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956 0.00006
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=) rs1057522740 0.00006
NM_001353921.2(ARHGEF9):c.1390+18A>G rs782653539 0.00005
NM_001353921.2(ARHGEF9):c.1391-4C>G rs1556301481 0.00005
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=) rs782097997 0.00005
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu) rs369081815 0.00005
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=) rs55818901 0.00005
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) rs138198839 0.00004
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=) rs782314375 0.00003
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg) rs371200226 0.00003
NM_001353921.2(ARHGEF9):c.583-18T>G rs1057521815 0.00003
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=) rs1322872780 0.00003
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=) rs1556358973 0.00003
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=) rs1330960420 0.00002
NM_001353921.2(ARHGEF9):c.1078-19C>T rs1412565246 0.00002
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=) rs782387990 0.00002
NM_001353921.2(ARHGEF9):c.1390+11C>T rs782212638 0.00002
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=) rs782395885 0.00002
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=) rs781904925 0.00002
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys) rs782237174 0.00002
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=) rs1556389015 0.00002
NM_001353921.2(ARHGEF9):c.815+11G>A rs782246143 0.00002
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=) rs1556334992 0.00001
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=) rs1556334802 0.00001
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=) rs781947373 0.00001
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=) rs1556334685 0.00001
NM_001353921.2(ARHGEF9):c.1322-17A>T rs782417263 0.00001
NM_001353921.2(ARHGEF9):c.1391-12C>T rs2047417425 0.00001
NM_001353921.2(ARHGEF9):c.1391-5T>C rs1181371428 0.00001
NM_001353921.2(ARHGEF9):c.1391-7A>G rs1602145711 0.00001
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=) rs782705959 0.00001
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=) rs782665661 0.00001
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=) rs782806516 0.00001
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=) rs1367866917 0.00001
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=) rs782671712 0.00001
NM_001353921.2(ARHGEF9):c.30+20G>A rs1556464456 0.00001
NM_001353921.2(ARHGEF9):c.31-10G>T rs782313914 0.00001
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=) rs781834665 0.00001
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=) rs782079969 0.00001
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=) rs781937951 0.00001
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=) rs1556365249 0.00001
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=) rs1556365224 0.00001
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=) rs782598343 0.00001
NM_001353921.2(ARHGEF9):c.946-19C>A rs1159447904 0.00001
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=) rs141158169 0.00001
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=) rs1556347447 0.00001
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=) rs2049510920
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=) rs370689173
NM_001353921.2(ARHGEF9):c.1077+10C>T
NM_001353921.2(ARHGEF9):c.1077+18T>C
NM_001353921.2(ARHGEF9):c.1077+19T>G rs2147265464
NM_001353921.2(ARHGEF9):c.1077+7C>G rs2147265578
NM_001353921.2(ARHGEF9):c.1078-13C>T
NM_001353921.2(ARHGEF9):c.1078-18C>A
NM_001353921.2(ARHGEF9):c.1078-18C>T rs781901799
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn) rs2048829340
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=) rs2147218180
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=) rs2147624145
NM_001353921.2(ARHGEF9):c.1321+18A>G
NM_001353921.2(ARHGEF9):c.1322-10T>C rs2147143891
NM_001353921.2(ARHGEF9):c.1390+13C>T
NM_001353921.2(ARHGEF9):c.1391-14C>A
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=) rs374753195
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile) rs2147114206
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu) rs2147114173
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys) rs781823638
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=) rs1602577401
NM_001353921.2(ARHGEF9):c.211-13C>A
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=) rs868932053
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=) rs2147508633
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=) rs1413001108
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
NM_001353921.2(ARHGEF9):c.30+9A>C rs2147835548
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
NM_001353921.2(ARHGEF9):c.31-29577C>T
NM_001353921.2(ARHGEF9):c.31-29579C>T
NM_001353921.2(ARHGEF9):c.31-5C>T
NM_001353921.2(ARHGEF9):c.31-6C>T
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=) rs2147507989
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
NM_001353921.2(ARHGEF9):c.402+15T>C rs2147507524
NM_001353921.2(ARHGEF9):c.402+20T>C
NM_001353921.2(ARHGEF9):c.402+8T>C
NM_001353921.2(ARHGEF9):c.403-12C>G
NM_001353921.2(ARHGEF9):c.403-17T>C
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=) rs2147451122
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=) rs782187939
NM_001353921.2(ARHGEF9):c.582+10T>A
NM_001353921.2(ARHGEF9):c.582+10_582+14del rs1556388923
NM_001353921.2(ARHGEF9):c.582+18T>C
NM_001353921.2(ARHGEF9):c.583-11dup rs782366734
NM_001353921.2(ARHGEF9):c.583-17T>G rs2147334936
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=) rs2147334626
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=) rs369716500
NM_001353921.2(ARHGEF9):c.815+10C>T
NM_001353921.2(ARHGEF9):c.815+18T>C
NM_001353921.2(ARHGEF9):c.815+8A>G rs1464003224
NM_001353921.2(ARHGEF9):c.815+8A>T rs1464003224
NM_001353921.2(ARHGEF9):c.816-10G>A
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=) rs1135401795
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=) rs782362648
NM_001353921.2(ARHGEF9):c.946-13A>C
NM_001353921.2(ARHGEF9):c.946-17T>A
NM_001353921.2(ARHGEF9):c.946-18A>G

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