ClinVar Miner

List of variants reported as pathogenic for familial polycythemia by OMIM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
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_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.548C>T (p.Ser183Leu) rs5030823 0.00001
Hb Little Rock rs36020563
NC_000016.10:g.173151A>T rs281864828
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.418A>G (p.Lys140Glu) rs41361546
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.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.103G>T (p.Val35Phe) rs1141387
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.294C>R (p.His98Gln) rs34515413
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.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_000551.4(VHL):c.222C>A (p.Val74=) rs759737367
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) rs104893831
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
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.379G>C (p.Asp127His) rs63750950
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) rs35723200
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.1609G>A (p.Gly537Arg) rs137853036
NM_001430.5(EPAS1):c.1609G>T (p.Gly537Trp) rs137853036
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.950C>G (p.Pro317Arg) rs80358193

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