ClinVar Miner

List of variants in gene F9 reported as likely pathogenic

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Gene type:
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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000133.4(F9):c.149G>C (p.Gly50Ala) rs1229048705 0.00001
NM_000133.4(F9):c.224G>A (p.Arg75Gln) rs137852228 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000133.4(F9):c.*1157A>G rs1317977313
NM_000133.4(F9):c.-17A>G rs1927322926
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
NM_000133.4(F9):c.1005C>G (p.Cys335Trp) rs1928110579
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) rs1603267362
NM_000133.4(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.4(F9):c.1067G>T (p.Trp356Leu) rs1479241411
NM_000133.4(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.4(F9):c.1079T>C (p.Phe360Ser)
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
NM_000133.4(F9):c.1105C>T (p.Leu369Phe) rs2148367939
NM_000133.4(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.4(F9):c.1115T>C (p.Leu372Pro) rs1556008584
NM_000133.4(F9):c.1144T>A (p.Cys382Ser) rs137852260
NM_000133.4(F9):c.1168A>T (p.Ile390Phe)
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
NM_000133.4(F9):c.1214A>T (p.Asp405Val)
NM_000133.4(F9):c.1219T>A (p.Cys407Ser)
NM_000133.4(F9):c.1229A>T (p.Asp410Val) rs1928125452
NM_000133.4(F9):c.1256T>G (p.Val419Gly) rs137852280
NM_000133.4(F9):c.1272C>A (p.Phe424Leu)
NM_000133.4(F9):c.1289G>A (p.Ser430Asn) rs1569333062
NM_000133.4(F9):c.1290C>A (p.Ser430Arg) rs762229532
NM_000133.4(F9):c.1295G>C (p.Gly432Ala) rs1928130497
NM_000133.4(F9):c.1328T>C (p.Ile443Thr) rs137852268
NM_000133.4(F9):c.141T>A (p.Tyr47Ter) rs1556435929
NM_000133.4(F9):c.161A>T (p.Glu54Val) rs1569481966
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.205T>A (p.Cys69Ser) rs2148356172
NM_000133.4(F9):c.235G>A (p.Glu79Lys) rs1927499978
NM_000133.4(F9):c.236A>T (p.Glu79Val)
NM_000133.4(F9):c.251C>T (p.Thr84Ile)
NM_000133.4(F9):c.271T>A (p.Tyr91Asn) rs1927507602
NM_000133.4(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.4(F9):c.284A>C (p.Asp95Ala) rs1927589695
NM_000133.4(F9):c.284A>T (p.Asp95Val) rs1927589695
NM_000133.4(F9):c.302C>A (p.Pro101Gln) rs2148357901
NM_000133.4(F9):c.314G>A (p.Gly105Asp) rs1927590546
NM_000133.4(F9):c.365G>T (p.Gly122Val) rs1927592770
NM_000133.4(F9):c.368T>C (p.Phe123Ser) rs1927592901
NM_000133.4(F9):c.382T>C (p.Cys128Arg)
NM_000133.4(F9):c.391+5G>A rs2148358021
NM_000133.4(F9):c.391+5_391+8del rs1927593812
NM_000133.4(F9):c.457G>A (p.Val153Met)
NM_000133.4(F9):c.464G>C (p.Cys155Ser)
NM_000133.4(F9):c.478G>C (p.Gly160Arg) rs1927768022
NM_000133.4(F9):c.482A>G (p.Tyr161Cys) rs1927768329
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.519dup (p.Val174fs) rs1556006174
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.706_707delinsCT (p.Gly236Leu)
NM_000133.4(F9):c.718T>G (p.Trp240Gly) rs1390220758
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.756T>G (p.Cys252Trp) rs1556008316
NM_000133.4(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.4(F9):c.786T>G (p.Ile262Met) rs2148367254
NM_000133.4(F9):c.796G>A (p.Ala266Thr)
NM_000133.4(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.4(F9):c.803G>T (p.Cys268Phe) rs1603267195
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.4(F9):c.835G>C (p.Ala279Pro) rs137852247
NM_000133.4(F9):c.845A>G (p.His282Arg) rs753654616
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
NM_000133.4(F9):c.86C>T (p.Thr29Ile)
NM_000133.4(F9):c.88+1G>A rs1603263397
NM_000133.4(F9):c.88+5G>T rs1603263401
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del) rs1928103331
NM_000133.4(F9):c.914A>G (p.Tyr305Cys) rs1603267332
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000133.4(F9):c.959A>G (p.Glu320Gly)

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