ClinVar Miner

List of variants in gene ARHGEF9 studied for X-linked intellectual disability-epilepsy syndrome

Included ClinVar conditions (4):
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Total variants: 42
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HGVS dbSNP
NM_001173479.2(ARHGEF9):c.29T>C (p.Met10Thr)
NM_001330495.2(ARHGEF9):c.-158C>T rs397514460
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) rs1556401730
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) rs1569451962
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu)
NM_015185.3(ARHGEF9):c.1001G>A (p.Arg334His)
NM_015185.3(ARHGEF9):c.1039A>C (p.Met347Leu) rs782248986
NM_015185.3(ARHGEF9):c.1273A>G (p.Lys425Glu) rs1569441733
NM_015185.3(ARHGEF9):c.1285del (p.Glu429fs)
NM_015185.3(ARHGEF9):c.1368A>G (p.Lys456=)
NM_015185.3(ARHGEF9):c.1381G>T (p.Ala461Ser) rs781870482
NM_015185.3(ARHGEF9):c.1399T>C (p.Ser467Pro) rs1556301359
NM_015185.3(ARHGEF9):c.1412C>T (p.Pro471Leu)
NM_015185.3(ARHGEF9):c.1444G>C (p.Val482Leu)
NM_015185.3(ARHGEF9):c.1453G>A (p.Gly485Ser) rs1365914320
NM_015185.3(ARHGEF9):c.1459G>A (p.Ala487Thr) rs1556301016
NM_015185.3(ARHGEF9):c.1515G>A (p.Trp505Ter) rs1556300769
NM_015185.3(ARHGEF9):c.157G>T (p.Glu53Ter)
NM_015185.3(ARHGEF9):c.164G>C (p.Gly55Ala) rs121918361
NM_015185.3(ARHGEF9):c.233A>T (p.Asp78Val) rs377326713
NM_015185.3(ARHGEF9):c.243C>T (p.Asn81=) rs782671712
NM_015185.3(ARHGEF9):c.311G>A (p.Arg104Gln) rs1556401714
NM_015185.3(ARHGEF9):c.382-3C>T
NM_015185.3(ARHGEF9):c.421A>G (p.Ser141Gly) rs1394345886
NM_015185.3(ARHGEF9):c.430C>A (p.Gln144Lys) rs781955551
NM_015185.3(ARHGEF9):c.535G>A (p.Glu179Lys)
NM_015185.3(ARHGEF9):c.541G>C (p.Gly181Arg) rs1556389083
NM_015185.3(ARHGEF9):c.543A>G (p.Gly181=) rs782187939
NM_015185.3(ARHGEF9):c.557A>G (p.Glu186Gly) rs1556388997
NM_015185.3(ARHGEF9):c.55C>T (p.His19Tyr)
NM_015185.3(ARHGEF9):c.561+1G>A rs1569476483
NM_015185.3(ARHGEF9):c.562-11dup rs782366734
NM_015185.3(ARHGEF9):c.618G>A (p.Met206Ile)
NM_015185.3(ARHGEF9):c.646C>T (p.Arg216Cys) rs782139620
NM_015185.3(ARHGEF9):c.767T>C (p.Leu256Pro)
NM_015185.3(ARHGEF9):c.794+8A>G rs1464003224
NM_015185.3(ARHGEF9):c.865C>T (p.Arg289Ter) rs1135401795
NM_015185.3(ARHGEF9):c.901C>T (p.Gln301Ter) rs1569458475

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