ClinVar Miner

List of variants reported as pathogenic for familial polycythemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 325
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NC_000011.10:g.5227100T>C rs34598529 0.00091
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000518.5(HBB):c.-137C>A rs33941377 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.316-2A>G rs33914668 0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs) rs35662066 0.00003
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00002
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959 0.00001
NM_000518.5(HBB):c.92+2T>C rs33956879 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.340+770T>C rs1346312258 0.00001
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275 0.00001
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_005475.3(SH2B3):c.1A>G (p.Met1Val) rs376261237 0.00001
NM_022051.3(EGLN1):c.461C>A (p.Ser154Ter) rs1018129986 0.00001
Hb Little Rock rs36020563
NC_000003.11:g.(?_10180443)_(10183830_?)del
NC_000003.11:g.(?_10183532)_(10188330_?)del
NC_000003.11:g.(?_10183579)_(10185909_?)del
NC_000003.11:g.(?_10183598)_(10206573_?)del
NC_000003.11:g.(?_10184445)_(10188340_?)del
NC_000003.11:g.10094065-?_10191654+?del
NC_000003.11:g.10106407-?_10191654+?del
NC_000003.12:g.(?_10052377)_(10149975_?)del
NC_000003.12:g.(?_10052377)_(10150035_?)del
NC_000003.12:g.(?_10064723)_(10149971_?)del
NC_000003.12:g.(?_10072861)_(10150035_?)del
NC_000003.12:g.(?_10141635)_(10142187_?)del
NC_000003.12:g.(?_10141635)_(10153670_?)del
NC_000003.12:g.(?_10141828)_(10146656_?)del
NC_000003.12:g.(?_10141838)_(10142197_?)del
NC_000003.12:g.(?_10141838)_(10149975_?)del
NC_000003.12:g.(?_10141848)_(10142197_?)del
NC_000003.12:g.(?_10141848)_(10143024_?)del
NC_000003.12:g.(?_10146504)_(10146646_?)del
NC_000003.12:g.(?_10146504)_(10149975_?)del
NC_000003.12:g.(?_10146504)_(10150035_?)del
NC_000003.12:g.(?_10146508)_(10149971_?)del
NC_000003.12:g.(?_10146514)_(10146636_?)del
NC_000003.12:g.(?_10149777)_(10149975_?)del
NC_000003.12:g.(?_10149777)_(10150035_?)del
NC_000016.10:g.173151A>T rs281864828
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.186G>C (p.Lys62Asn) rs33985574
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.266C>T (p.Ala89Val) rs33983416
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.418A>G (p.Lys140Glu) rs41361546
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.110C>A (p.Pro37His) rs33993004
NM_000518.4(HBB):c.206T>A (p.Leu69His) rs33972593
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) rs33987903
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.283G>C (p.Asp95His) rs33959340
NM_000518.4(HBB):c.293A>T (p.His98Leu) rs33951978
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) rs33954595
NM_000518.4(HBB):c.298G>C (p.Asp100His) rs33954595
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) rs33954595
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) rs33971048
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) rs33971048
NM_000518.4(HBB):c.299A>T (p.Asp100Val) rs33971048
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) rs33965000
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) rs33966487
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.428C>A (p.Ala143Asp) rs33921821
NM_000518.4(HBB):c.439C>G (p.His147Asp) rs33961444
NM_000518.4(HBB):c.440A>C (p.His147Pro) rs33954264
NM_000518.4(HBB):c.440A>T (p.His147Leu) rs33954264
NM_000518.4(HBB):c.70G>T (p.Val24Phe) rs33929459
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.135del (p.Phe46fs) rs80356820
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) rs33995148
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) rs35351128
NM_000518.5(HBB):c.27dup (p.Ser10fs) rs35699606
NM_000518.5(HBB):c.294C>R (p.His98Gln) rs34515413
NM_000518.5(HBB):c.300T>A (p.Asp100Glu) rs34013622
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) rs33937393
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) rs35209591
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) rs35067717
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) rs34980264
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) rs33949869
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) rs35291591
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000551.3(VHL):c.464-?_*3705del
NM_000551.4(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.4(VHL):c.180del (p.Val62fs) rs730882037
NM_000551.4(VHL):c.182_183del (p.Pro61fs)
NM_000551.4(VHL):c.184del (p.Val62fs)
NM_000551.4(VHL):c.189_193dup (p.Ser65fs)
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.191dup (p.Ser65fs)
NM_000551.4(VHL):c.193T>A (p.Ser65Thr) rs869025616
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.202T>C (p.Ser68Pro)
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.204dup (p.Arg69fs)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.222C>A (p.Val74=) rs759737367
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.4(VHL):c.231C>A (p.Cys77Ter)
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.239G>A (p.Ser80Asn) rs5030805
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.241_244dup (p.Arg82fs) rs2125125103
NM_000551.4(VHL):c.244C>G (p.Arg82Gly) rs1214305423
NM_000551.4(VHL):c.244_259dup (p.Val87fs) rs2125125105
NM_000551.4(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.264G>A (p.Trp88Ter) rs869025622
NM_000551.4(VHL):c.264G>C (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.264_267dup (p.Asn90fs) rs1696134947
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.4(VHL):c.291_292delinsAC (p.Tyr98His)
NM_000551.4(VHL):c.291_302del (p.Tyr98_Leu101del) rs1575922296
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.298del (p.Thr100fs) rs2125125269
NM_000551.4(VHL):c.305dup (p.Pro103fs)
NM_000551.4(VHL):c.310_311insC (p.Gly104fs)
NM_000551.4(VHL):c.314del (p.Thr105fs)
NM_000551.4(VHL):c.314dup (p.Arg107fs) rs2125125325
NM_000551.4(VHL):c.319C>A (p.Arg107Ser)
NM_000551.4(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.329del (p.His110fs) rs1559426199
NM_000551.4(VHL):c.329dup (p.His110fs)
NM_000551.4(VHL):c.330_331delinsTT (p.Ser111Cys)
NM_000551.4(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.4(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.4(VHL):c.339_340+5del rs1575922562
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+1G>C rs730882032
NM_000551.4(VHL):c.340+2T>G
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.340G>A (p.Gly114Ser) rs869025636
NM_000551.4(VHL):c.340G>C (p.Gly114Arg) rs869025636
NM_000551.4(VHL):c.341-11T>A rs2125128187
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.341-2A>G rs869025637
NM_000551.4(VHL):c.341-2A>T
NM_000551.4(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.4(VHL):c.349T>C (p.Trp117Arg)
NM_000551.4(VHL):c.349T>G (p.Trp117Gly) rs1696261074
NM_000551.4(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.4(VHL):c.355T>C (p.Phe119Leu) rs1553619948
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.361G>A (p.Asp121Asn)
NM_000551.4(VHL):c.363dup (p.Ala122fs) rs1575927767
NM_000551.4(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.4(VHL):c.372_375del (p.His125fs)
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.376_382delinsAA (p.Asp126fs) rs1696262643
NM_000551.4(VHL):c.377del (p.Asp126fs) rs1553619952
NM_000551.4(VHL):c.382_388del (p.Leu129fs)
NM_000551.4(VHL):c.383T>C (p.Leu128Pro) rs2125128327
NM_000551.4(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.4(VHL):c.388G>A (p.Val130Ile)
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.4(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.4(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.400G>T (p.Glu134Ter) rs2125128363
NM_000551.4(VHL):c.406T>G (p.Phe136Val)
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.408dup (p.Val137fs)
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.419_420del (p.Leu140fs) rs869025649
NM_000551.4(VHL):c.422dup (p.Asn141fs) rs1553619976
NM_000551.4(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.4(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.4(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.4(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.448_449del (p.Asn150fs) rs1696266605
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.452T>C (p.Ile151Thr) rs869025655
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.461C>T (p.Pro154Leu) rs1399097617
NM_000551.4(VHL):c.463+1G>A rs869025657
NM_000551.4(VHL):c.463+1G>T rs869025657
NM_000551.4(VHL):c.463+2T>C rs5030814
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.464-2A>C
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.472C>G (p.Leu158Val) rs1559429613
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.475A>T (p.Lys159Ter) rs1575932011
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.481C>G (p.Arg161Gly) rs5030818
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.485_486delinsTT (p.Cys162Phe)
NM_000551.4(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>G (p.Leu163Arg) rs28940297
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.493del (p.Val165fs)
NM_000551.4(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.4(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.500G>T (p.Arg167Leu) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.504_519del (p.Ser168fs) rs2125130543
NM_000551.4(VHL):c.505dup (p.Leu169fs) rs1696357569
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.4(VHL):c.524dup (p.Tyr175Ter)
NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_000551.4(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.540_543del (p.Val181fs) rs869025664
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.555C>A (p.Tyr185Ter)
NM_000551.4(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln) rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu) rs33991779
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys) rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His) rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu) rs33935328
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser) rs35239527
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.379G>C (p.Asp127His) rs63750950
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) rs35723200
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter) rs1596573335
NM_000558.5(HBA1):c.94_95del (p.Arg32fs) rs1596573477
NM_000799.4(EPO):c.20del (p.Pro7fs) rs1554393458
NM_000799.4(EPO):c.33del (p.Trp11fs) rs1554393463
NM_001430.5(EPAS1):c.1603A>G (p.Met535Val) rs137853037
NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr) rs2103672173
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg) rs137853036
NM_001430.5(EPAS1):c.1609G>T (p.Gly537Trp) rs137853036
NM_022051.3(EGLN1):c.1010dup (p.Val338fs) rs2102898170
NM_022051.3(EGLN1):c.1112G>A (p.Arg371His) rs119476044
NM_022051.3(EGLN1):c.1121A>G (p.His374Arg) rs119476045
NM_022051.3(EGLN1):c.494del (p.Pro165fs)
NM_022051.3(EGLN1):c.774G>A (p.Trp258Ter)
NM_022051.3(EGLN1):c.950C>G (p.Pro317Arg) rs80358193

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