ClinVar Miner

List of variants reported as likely benign for familial polycythemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 504
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_022051.3(EGLN1):c.*494G>A rs144067360 0.01167
NM_022051.3(EGLN1):c.*1787T>G rs143135847 0.01166
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869 0.00804
NM_000518.5(HBB):c.-273T>C rs139703273 0.00604
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491 0.00455
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876 0.00358
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_000121.3(EPOR):c.-133T>G rs147119630 0.00188
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_001430.5(EPAS1):c.525G>A (p.Thr175=) rs115264325 0.00137
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017 0.00118
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_022051.3(EGLN1):c.470A>G (p.Gln157Arg) rs748272071 0.00041
NM_000551.4(VHL):c.340+686_340+687del rs944477902 0.00037
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
NM_000121.4(EPOR):c.1428C>T (p.Ala476=) rs141096553 0.00016
NM_001430.5(EPAS1):c.886+12G>A rs369745324 0.00016
NM_000551.4(VHL):c.-64C>T rs772944298 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_001430.5(EPAS1):c.-4G>A rs535202677 0.00014
NM_000551.4(VHL):c.340+727T>G rs996243576 0.00011
NM_022051.3(EGLN1):c.369C>G (p.Ala123=) rs977096708 0.00011
NM_000551.4(VHL):c.340+742G>T rs186099278 0.00009
NM_000551.4(VHL):c.340+790G>A rs527534541 0.00009
NM_000551.4(VHL):c.340+691C>G rs1041395081 0.00008
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.115G>C (p.Gly39Arg) rs768650092 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.4(VHL):c.312C>T (p.Gly104=) rs946898891 0.00007
NM_001430.5(EPAS1):c.*1746G>A rs540911183 0.00007
NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro) rs370841243 0.00006
NM_000551.4(VHL):c.340+10C>T rs777622214 0.00006
NM_000551.4(VHL):c.464-10G>A rs552930903 0.00006
NM_000551.4(VHL):c.531A>G (p.Arg177=) rs766088261 0.00006
NM_001430.5(EPAS1):c.1554+7G>A rs376028682 0.00006
NM_022051.3(EGLN1):c.489C>T (p.Tyr163=) rs773919305 0.00006
NM_022051.3(EGLN1):c.939T>C (p.His313=) rs777082260 0.00006
NM_000551.4(VHL):c.552C>T (p.Leu184=) rs779157605 0.00005
NM_022051.3(EGLN1):c.168C>T (p.Leu56=) rs750205790 0.00005
NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) rs754708788 0.00004
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) rs775164142 0.00004
NM_000121.4(EPOR):c.24C>T (p.Leu8=) rs577368929 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.213C>T (p.Pro71=) rs201663073 0.00004
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.555C>T (p.Tyr185=) rs864622109 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 0.00004
NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys) rs770783327 0.00004
NM_022051.3(EGLN1):c.1216+16G>A rs1482429599 0.00004
NM_022051.3(EGLN1):c.280A>G (p.Arg94Gly) rs539743848 0.00004
NM_022051.3(EGLN1):c.378G>A (p.Pro126=) rs940090389 0.00004
NM_022051.3(EGLN1):c.597G>A (p.Val199=) rs563998083 0.00004
NM_000551.4(VHL):c.340+20G>A rs757151154 0.00003
NM_000551.4(VHL):c.340+8C>A rs756068442 0.00003
NM_000551.4(VHL):c.375C>T (p.His125=) rs863224372 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 0.00003
NM_000551.4(VHL):c.549G>A (p.Ser183=) rs193922614 0.00003
NM_000551.4(VHL):c.54A>C (p.Ala18=) rs1305687580 0.00003
NM_000551.4(VHL):c.612G>A (p.Glu204=) rs747805018 0.00003
NM_022051.3(EGLN1):c.67C>T (p.Leu23=) rs768214321 0.00003
NM_022051.3(EGLN1):c.832G>A (p.Asp278Asn) rs371536347 0.00003
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.237C>T (p.Arg79=) rs760899424 0.00002
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 0.00002
NM_000551.4(VHL):c.301C>T (p.Leu101=) rs772300829 0.00002
NM_000551.4(VHL):c.315G>C (p.Thr105=) rs769102979 0.00002
NM_000551.4(VHL):c.336C>T (p.Tyr112=) rs751232153 0.00002
NM_000551.4(VHL):c.340+11G>A rs1309285376 0.00002
NM_000551.4(VHL):c.340+604C>T rs192085256 0.00002
NM_000551.4(VHL):c.340+634C>T rs1461514639 0.00002
NM_000551.4(VHL):c.340+789C>G rs1241756327 0.00002
NM_000551.4(VHL):c.340+800G>A rs999509680 0.00002
NM_000551.4(VHL):c.463+15C>G rs761828544 0.00002
NM_022051.3(EGLN1):c.1203A>G (p.Val401=) rs1388172183 0.00002
NM_022051.3(EGLN1):c.24C>T (p.Pro8=) rs766080154 0.00002
NM_022051.3(EGLN1):c.27C>T (p.Gly9=) rs575002938 0.00002
NM_022051.3(EGLN1):c.321G>A (p.Ala107=) rs938944314 0.00002
NM_022051.3(EGLN1):c.510G>A (p.Gly170=) rs753663555 0.00002
NM_022051.3(EGLN1):c.522C>T (p.Ser174=) rs767045832 0.00002
NM_022051.3(EGLN1):c.588G>A (p.Glu196=) rs766038717 0.00002
NM_022051.3(EGLN1):c.630G>A (p.Val210=) rs767760072 0.00002
NM_022051.3(EGLN1):c.672C>T (p.Asp224=) rs1656579647 0.00002
NM_022051.3(EGLN1):c.87C>T (p.Asn29=) rs771144835 0.00002
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943 0.00001
NM_000551.4(VHL):c.102C>T (p.Gly34=) rs967421751 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.108G>A (p.Glu36=) rs1553619344 0.00001
NM_000551.4(VHL):c.129C>T (p.Ser43=) rs864622645 0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg) rs199583685 0.00001
NM_000551.4(VHL):c.171G>A (p.Gly57=) rs750103719 0.00001
NM_000551.4(VHL):c.180G>C (p.Arg60=) rs1224891387 0.00001
NM_000551.4(VHL):c.192C>T (p.Arg64=) rs1012545817 0.00001
NM_000551.4(VHL):c.216C>T (p.Ser72=) rs774557051 0.00001
NM_000551.4(VHL):c.222C>G (p.Val74=) rs759737367 0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=) rs768104793 0.00001
NM_000551.4(VHL):c.249C>G (p.Val83=) rs1271292937 0.00001
NM_000551.4(VHL):c.252G>C (p.Val84=) rs1436342215 0.00001
NM_000551.4(VHL):c.255G>A (p.Leu85=) rs876658508 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.261A>G (p.Val87=) rs1386184754 0.00001
NM_000551.4(VHL):c.285G>T (p.Pro95=) rs975432073 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.340+601C>G rs978373924 0.00001
NM_000551.4(VHL):c.340+631A>G rs947805761 0.00001
NM_000551.4(VHL):c.340+675A>G rs1194123576 0.00001
NM_000551.4(VHL):c.340+707G>A rs924279704 0.00001
NM_000551.4(VHL):c.340+713C>T rs1432659600 0.00001
NM_000551.4(VHL):c.340+738C>T rs1274332503 0.00001
NM_000551.4(VHL):c.340+791G>A rs903894625 0.00001
NM_000551.4(VHL):c.340+809A>G rs1377166151 0.00001
NM_000551.4(VHL):c.341-10G>C rs140064807 0.00001
NM_000551.4(VHL):c.354C>T (p.Leu118=) rs1051892430 0.00001
NM_000551.4(VHL):c.385C>T (p.Leu129=) rs369018004 0.00001
NM_000551.4(VHL):c.387G>T (p.Leu129=) rs778846471 0.00001
NM_000551.4(VHL):c.39A>G (p.Val13=) rs996469746 0.00001
NM_000551.4(VHL):c.417T>A (p.Ser139=) rs1406004337 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.463+12T>C rs1382435156 0.00001
NM_000551.4(VHL):c.465G>A (p.Val155=) rs1696354036 0.00001
NM_000551.4(VHL):c.471T>C (p.Thr157=) rs1252473811 0.00001
NM_000551.4(VHL):c.48G>A (p.Glu16=) rs1057522140 0.00001
NM_000551.4(VHL):c.507A>C (p.Leu169=) rs878854126 0.00001
NM_000551.4(VHL):c.540C>T (p.Ile180=) rs374927292 0.00001
NM_000551.4(VHL):c.561T>C (p.Asp187=) rs370769257 0.00001
NM_000551.4(VHL):c.582G>A (p.Val194=) rs1696363804 0.00001
NM_000551.4(VHL):c.594G>C (p.Leu198=) rs1575932599 0.00001
NM_000551.4(VHL):c.606A>G (p.Thr202=) rs1575932637 0.00001
NM_000551.4(VHL):c.627A>G (p.Gln209=) rs758494789 0.00001
NM_000551.4(VHL):c.90G>A (p.Gly30=) rs391818 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys) rs777687956 0.00001
NM_022051.3(EGLN1):c.1065C>T (p.Asp355=) rs746279366 0.00001
NM_022051.3(EGLN1):c.1209T>C (p.Tyr403=) rs778151367 0.00001
NM_022051.3(EGLN1):c.1263C>T (p.Val421=) rs756924512 0.00001
NM_022051.3(EGLN1):c.195C>A (p.Leu65=) rs1481560261 0.00001
NM_022051.3(EGLN1):c.225C>T (p.Ser75=) rs1261683983 0.00001
NM_022051.3(EGLN1):c.252G>T (p.Pro84=) rs1060504235 0.00001
NM_022051.3(EGLN1):c.372G>T (p.Ala124=) rs1313369998 0.00001
NM_022051.3(EGLN1):c.459A>G (p.Ser153=) rs1228828348 0.00001
NM_022051.3(EGLN1):c.483C>T (p.Asn161=) rs763502578 0.00001
NM_022051.3(EGLN1):c.642C>A (p.Leu214=) rs145743493 0.00001
NM_022051.3(EGLN1):c.780G>A (p.Glu260=) rs766379743 0.00001
NM_022051.3(EGLN1):c.816C>T (p.Leu272=) rs1397779178 0.00001
NM_022051.3(EGLN1):c.892-13A>G rs528412168 0.00001
NM_000121.4(EPOR):c.957C>G (p.Pro319=)
NM_000518.5(HBB):c.402G>A (p.Val134=) rs113082294
NM_000551.4(VHL):c.-10C>T rs1192379474
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.105C>A (p.Ala35=) rs1310829877
NM_000551.4(VHL):c.111G>A (p.Glu37=)
NM_000551.4(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.4(VHL):c.120G>A (p.Pro40=) rs1189123803
NM_000551.4(VHL):c.123A>G (p.Glu41=) rs2125124753
NM_000551.4(VHL):c.129C>G (p.Ser43=) rs864622645
NM_000551.4(VHL):c.12G>A (p.Arg4=) rs1553619274
NM_000551.4(VHL):c.132C>T (p.Gly44=) rs1696123413
NM_000551.4(VHL):c.135G>C (p.Pro45=) rs773519476
NM_000551.4(VHL):c.135G>T (p.Pro45=)
NM_000551.4(VHL):c.141A>G (p.Glu47=) rs1353920298
NM_000551.4(VHL):c.147C>A (p.Gly49=)
NM_000551.4(VHL):c.150C>A (p.Ala50=) rs61751580
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.156G>A (p.Glu52=) rs2125124847
NM_000551.4(VHL):c.159G>A (p.Glu53=) rs1553619385
NM_000551.4(VHL):c.15G>A (p.Ala5=) rs1355874307
NM_000551.4(VHL):c.165G>A (p.Glu55=) rs1553619391
NM_000551.4(VHL):c.168C>A (p.Ala56=) rs864622714
NM_000551.4(VHL):c.168C>G (p.Ala56=) rs864622714
NM_000551.4(VHL):c.168C>T (p.Ala56=) rs864622714
NM_000551.4(VHL):c.171G>C (p.Gly57=) rs750103719
NM_000551.4(VHL):c.172C>A (p.Arg58=) rs757781272
NM_000551.4(VHL):c.174G>A (p.Arg58=) rs2125124907
NM_000551.4(VHL):c.177G>A (p.Pro59=) rs2125124920
NM_000551.4(VHL):c.180G>A (p.Arg60=) rs1224891387
NM_000551.4(VHL):c.183C>A (p.Pro61=) rs63650860
NM_000551.4(VHL):c.186_187delinsTT (p.Val62_Leu63=) rs2125124945
NM_000551.4(VHL):c.187C>T (p.Leu63=)
NM_000551.4(VHL):c.189G>A (p.Leu63=) rs1575921711
NM_000551.4(VHL):c.18G>A (p.Glu6=) rs1004620245
NM_000551.4(VHL):c.195G>C (p.Ser65=) rs1553619409
NM_000551.4(VHL):c.198G>A (p.Val66=)
NM_000551.4(VHL):c.201C>T (p.Asn67=) rs769658318
NM_000551.4(VHL):c.204G>C (p.Ser68=) rs773246608
NM_000551.4(VHL):c.204G>T (p.Ser68=) rs773246608
NM_000551.4(VHL):c.207C>G (p.Arg69=) rs1060503550
NM_000551.4(VHL):c.207C>T (p.Arg69=) rs1060503550
NM_000551.4(VHL):c.213C>G (p.Pro71=) rs201663073
NM_000551.4(VHL):c.21C>T (p.Asn7=) rs1060503561
NM_000551.4(VHL):c.222C>T (p.Val74=) rs759737367
NM_000551.4(VHL):c.228C>T (p.Phe76=) rs1575921940
NM_000551.4(VHL):c.237C>G (p.Arg79=) rs760899424
NM_000551.4(VHL):c.240T>C (p.Ser80=) rs1553619424
NM_000551.4(VHL):c.243G>C (p.Pro81=)
NM_000551.4(VHL):c.252G>A (p.Val84=) rs1436342215
NM_000551.4(VHL):c.255G>T (p.Leu85=) rs876658508
NM_000551.4(VHL):c.258C>T (p.Pro86=) rs781063331
NM_000551.4(VHL):c.267C>G (p.Leu89=) rs755794553
NM_000551.4(VHL):c.267C>T (p.Leu89=) rs755794553
NM_000551.4(VHL):c.270C>T (p.Asn90=)
NM_000551.4(VHL):c.273C>T (p.Phe91=)
NM_000551.4(VHL):c.276C>T (p.Asp92=) rs1442093467
NM_000551.4(VHL):c.27C>T (p.Asp9=) rs1017141110
NM_000551.4(VHL):c.282G>A (p.Glu94=)
NM_000551.4(VHL):c.285G>A (p.Pro95=) rs975432073
NM_000551.4(VHL):c.288G>A (p.Gln96=) rs1553619446
NM_000551.4(VHL):c.291C>T (p.Pro97=) rs1805159
NM_000551.4(VHL):c.294C>T (p.Tyr98=) rs1559426115
NM_000551.4(VHL):c.297A>C (p.Pro99=) rs774753107
NM_000551.4(VHL):c.300G>A (p.Thr100=) rs915491008
NM_000551.4(VHL):c.300G>T (p.Thr100=) rs915491008
NM_000551.4(VHL):c.303G>A (p.Leu101=) rs766583052
NM_000551.4(VHL):c.306G>A (p.Pro102=)
NM_000551.4(VHL):c.306G>T (p.Pro102=) rs550155859
NM_000551.4(VHL):c.309T>C (p.Pro103=) rs1262511541
NM_000551.4(VHL):c.30G>A (p.Glu10=) rs963501454
NM_000551.4(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.4(VHL):c.315G>T (p.Thr105=) rs769102979
NM_000551.4(VHL):c.318C>T (p.Gly106=)
NM_000551.4(VHL):c.324C>T (p.Arg108=) rs878854124
NM_000551.4(VHL):c.327C>A (p.Ile109=) rs863224371
NM_000551.4(VHL):c.327C>T (p.Ile109=) rs863224371
NM_000551.4(VHL):c.330C>T (p.His110=)
NM_000551.4(VHL):c.333C>T (p.Ser111=) rs765978945
NM_000551.4(VHL):c.33C>G (p.Ala11=)
NM_000551.4(VHL):c.33C>T (p.Ala11=) rs778674343
NM_000551.4(VHL):c.340+10C>A rs777622214
NM_000551.4(VHL):c.340+10C>G
NM_000551.4(VHL):c.340+10del rs2125125434
NM_000551.4(VHL):c.340+11G>T
NM_000551.4(VHL):c.340+14G>C
NM_000551.4(VHL):c.340+15C>T
NM_000551.4(VHL):c.340+20G>T rs757151154
NM_000551.4(VHL):c.340+577C>G rs1696157821
NM_000551.4(VHL):c.340+595C>A rs1335472800
NM_000551.4(VHL):c.340+5G>A rs61758376
NM_000551.4(VHL):c.340+5_340+17dup
NM_000551.4(VHL):c.340+610C>T
NM_000551.4(VHL):c.340+623G>C
NM_000551.4(VHL):c.340+626A>G rs1696159137
NM_000551.4(VHL):c.340+627A>G
NM_000551.4(VHL):c.340+631A>T rs947805761
NM_000551.4(VHL):c.340+633T>C rs2125125904
NM_000551.4(VHL):c.340+646A>G rs765323685
NM_000551.4(VHL):c.340+646A>T rs765323685
NM_000551.4(VHL):c.340+653_340+654del rs1420441572
NM_000551.4(VHL):c.340+670A>T
NM_000551.4(VHL):c.340+688C>T rs1696160788
NM_000551.4(VHL):c.340+694A>C rs1441240589
NM_000551.4(VHL):c.340+701G>A rs1039517619
NM_000551.4(VHL):c.340+701G>T rs1039517619
NM_000551.4(VHL):c.340+703C>T
NM_000551.4(VHL):c.340+704C>A
NM_000551.4(VHL):c.340+704C>G
NM_000551.4(VHL):c.340+714G>A rs1054796088
NM_000551.4(VHL):c.340+714G>C rs1054796088
NM_000551.4(VHL):c.340+714G>T rs1054796088
NM_000551.4(VHL):c.340+716G>C rs1696162086
NM_000551.4(VHL):c.340+721A>T
NM_000551.4(VHL):c.340+728dup rs1232519357
NM_000551.4(VHL):c.340+730C>G rs548008573
NM_000551.4(VHL):c.340+730C>T rs548008573
NM_000551.4(VHL):c.340+737G>C rs1696162735
NM_000551.4(VHL):c.340+745A>G
NM_000551.4(VHL):c.340+745A>T
NM_000551.4(VHL):c.340+796G>A
NM_000551.4(VHL):c.340+7G>C rs869025635
NM_000551.4(VHL):c.340+7del rs1575922613
NM_000551.4(VHL):c.340+802G>C
NM_000551.4(VHL):c.340+803A>G rs2125126112
NM_000551.4(VHL):c.340+806A>G
NM_000551.4(VHL):c.340+808G>C
NM_000551.4(VHL):c.340+809A>T rs1377166151
NM_000551.4(VHL):c.340+819A>G rs1696164925
NM_000551.4(VHL):c.340+821C>G rs552399136
NM_000551.4(VHL):c.340+826C>T rs2125126135
NM_000551.4(VHL):c.340+833A>T rs2125126148
NM_000551.4(VHL):c.340+8C>T rs756068442
NM_000551.4(VHL):c.340+9C>T rs1575922622
NM_000551.4(VHL):c.341-11T>G rs2125128187
NM_000551.4(VHL):c.341-14G>A rs1696259908
NM_000551.4(VHL):c.341-15T>C rs2125128176
NM_000551.4(VHL):c.341-18C>T
NM_000551.4(VHL):c.341-20A>G
NM_000551.4(VHL):c.341-4A>T rs1559428033
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.341-5G>C
NM_000551.4(VHL):c.341-7C>T rs1308495590
NM_000551.4(VHL):c.341-8C>T rs1272767361
NM_000551.4(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.4(VHL):c.357C>T (p.Phe119=) rs1559428077
NM_000551.4(VHL):c.366A>C (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.4(VHL):c.387G>C (p.Leu129=) rs778846471
NM_000551.4(VHL):c.393C>T (p.Asn131=)
NM_000551.4(VHL):c.39A>T (p.Val13=) rs996469746
NM_000551.4(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.4(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.4(VHL):c.417T>G (p.Ser139=) rs1406004337
NM_000551.4(VHL):c.420C>T (p.Leu140=) rs369465430
NM_000551.4(VHL):c.42C>A (p.Gly14=)
NM_000551.4(VHL):c.432A>G (p.Gly144=) rs1575928044
NM_000551.4(VHL):c.444T>C (p.Phe148=)
NM_000551.4(VHL):c.447C>T (p.Ala149=) rs2125128479
NM_000551.4(VHL):c.450T>C (p.Asn150=)
NM_000551.4(VHL):c.456A>G (p.Thr152=)
NM_000551.4(VHL):c.457C>T (p.Leu153=) rs2125128512
NM_000551.4(VHL):c.459G>A (p.Leu153=) rs1382653522
NM_000551.4(VHL):c.459G>T (p.Leu153=)
NM_000551.4(VHL):c.45G>A (p.Ala15=) rs563813895
NM_000551.4(VHL):c.45G>C (p.Ala15=) rs563813895
NM_000551.4(VHL):c.45G>T (p.Ala15=)
NM_000551.4(VHL):c.463+13T>G
NM_000551.4(VHL):c.463+14A>C
NM_000551.4(VHL):c.463+15C>A
NM_000551.4(VHL):c.463+16T>G rs2125128572
NM_000551.4(VHL):c.463+18T>A
NM_000551.4(VHL):c.463+5T>G rs1003364563
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.463+9G>T
NM_000551.4(VHL):c.464-12T>C rs746646171
NM_000551.4(VHL):c.464-16G>A
NM_000551.4(VHL):c.464-16G>C
NM_000551.4(VHL):c.464-16G>T rs1453921703
NM_000551.4(VHL):c.464-17G>C
NM_000551.4(VHL):c.464-6T>A
NM_000551.4(VHL):c.464-6T>G
NM_000551.4(VHL):c.464-7C>A
NM_000551.4(VHL):c.464-7C>T
NM_000551.4(VHL):c.464-9C>A
NM_000551.4(VHL):c.465G>T (p.Val155=) rs1696354036
NM_000551.4(VHL):c.474G>T (p.Leu158=) rs1575932005
NM_000551.4(VHL):c.477A>G (p.Lys159=) rs1696354920
NM_000551.4(VHL):c.489C>G (p.Leu163=) rs1575932067
NM_000551.4(VHL):c.495T>A (p.Val165=)
NM_000551.4(VHL):c.498C>T (p.Val166=) rs2125130531
NM_000551.4(VHL):c.501G>C (p.Arg167=) rs1461479062
NM_000551.4(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.4(VHL):c.507A>G (p.Leu169=)
NM_000551.4(VHL):c.510C>A (p.Val170=)
NM_000551.4(VHL):c.510C>G (p.Val170=)
NM_000551.4(VHL):c.516T>G (p.Pro172=) rs1575932227
NM_000551.4(VHL):c.519G>A (p.Glu173=)
NM_000551.4(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.4(VHL):c.525C>T (p.Tyr175=) rs5030835
NM_000551.4(VHL):c.532C>T (p.Leu178=) rs755146587
NM_000551.4(VHL):c.537C>T (p.Asp179=)
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000551.4(VHL):c.552C>G (p.Leu184=)
NM_000551.4(VHL):c.562C>T (p.Leu188=)
NM_000551.4(VHL):c.570C>T (p.Asp190=) rs2125130723
NM_000551.4(VHL):c.573C>T (p.His191=)
NM_000551.4(VHL):c.576A>C (p.Pro192=) rs1372952726
NM_000551.4(VHL):c.579T>C (p.Asn193=) rs1060503558
NM_000551.4(VHL):c.57C>A (p.Gly19=) rs1453582828
NM_000551.4(VHL):c.57C>T (p.Gly19=)
NM_000551.4(VHL):c.582G>T (p.Val194=)
NM_000551.4(VHL):c.588A>G (p.Lys196=) rs935543450
NM_000551.4(VHL):c.591C>T (p.Asp197=) rs1575932584
NM_000551.4(VHL):c.592C>T (p.Leu198=) rs1187217673
NM_000551.4(VHL):c.594G>A (p.Leu198=) rs1575932599
NM_000551.4(VHL):c.597G>A (p.Glu199=) rs1387975369
NM_000551.4(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.4(VHL):c.603G>C (p.Leu201=)
NM_000551.4(VHL):c.606A>C (p.Thr202=) rs1575932637
NM_000551.4(VHL):c.609G>A (p.Gln203=)
NM_000551.4(VHL):c.60C>G (p.Val20=) rs1553619311
NM_000551.4(VHL):c.60C>T (p.Val20=)
NM_000551.4(VHL):c.618T>C (p.Ile206=) rs1575932691
NM_000551.4(VHL):c.630G>A (p.Arg210=) rs1575932755
NM_000551.4(VHL):c.63A>G (p.Glu21=) rs1696117984
NM_000551.4(VHL):c.66G>A (p.Glu22=) rs768452685
NM_000551.4(VHL):c.69C>T (p.Tyr23=) rs1553619313
NM_000551.4(VHL):c.6C>G (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.6C>T (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.72C>A (p.Gly24=) rs1375079282
NM_000551.4(VHL):c.72C>T (p.Gly24=)
NM_000551.4(VHL):c.75T>C (p.Pro25=) rs1553619317
NM_000551.4(VHL):c.87C>A (p.Gly29=)
NM_000551.4(VHL):c.87C>T (p.Gly29=) rs987301475
NM_000551.4(VHL):c.93G>A (p.Glu31=) rs1438911242
NM_000551.4(VHL):c.99G>T (p.Ser33=)
NM_000551.4(VHL):c.9G>C (p.Arg3=)
NM_000551.4(VHL):c.9G>T (p.Arg3=) rs1696113334
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys) rs780349023
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-2689_-2686delCACT rs577920148
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593
NM_022051.3(EGLN1):c.1008C>T (p.Ala336=)
NM_022051.3(EGLN1):c.1011+11T>G rs2102898155
NM_022051.3(EGLN1):c.1011+17A>G
NM_022051.3(EGLN1):c.1012-11T>C
NM_022051.3(EGLN1):c.1012-13G>T
NM_022051.3(EGLN1):c.1012-14G>C
NM_022051.3(EGLN1):c.1012-17T>C
NM_022051.3(EGLN1):c.1012-5C>G
NM_022051.3(EGLN1):c.105C>T (p.Arg35=)
NM_022051.3(EGLN1):c.108C>T (p.Cys36=)
NM_022051.3(EGLN1):c.1092G>C (p.Leu364=)
NM_022051.3(EGLN1):c.1119T>A (p.Pro373=) rs756264599
NM_022051.3(EGLN1):c.111C>T (p.Arg37=)
NM_022051.3(EGLN1):c.1131A>G (p.Gln377=)
NM_022051.3(EGLN1):c.1148+15C>T
NM_022051.3(EGLN1):c.1148+7T>G
NM_022051.3(EGLN1):c.1149-13A>C
NM_022051.3(EGLN1):c.1216+18C>T
NM_022051.3(EGLN1):c.1216+20A>G
NM_022051.3(EGLN1):c.1217-7C>T
NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)
NM_022051.3(EGLN1):c.1257T>C (p.Asp419=) rs1348057473
NM_022051.3(EGLN1):c.1260G>A (p.Ser420=)
NM_022051.3(EGLN1):c.1278C>T (p.Phe426=)
NM_022051.3(EGLN1):c.183C>T (p.Ser61=)
NM_022051.3(EGLN1):c.195C>T (p.Leu65=)
NM_022051.3(EGLN1):c.201C>T (p.His67=)
NM_022051.3(EGLN1):c.213A>G (p.Pro71=)
NM_022051.3(EGLN1):c.225C>G (p.Ser75=) rs1261683983
NM_022051.3(EGLN1):c.234G>T (p.Ala78=)
NM_022051.3(EGLN1):c.237G>A (p.Pro79=)
NM_022051.3(EGLN1):c.240G>C (p.Pro80=)
NM_022051.3(EGLN1):c.243T>A (p.Ala81=)
NM_022051.3(EGLN1):c.246A>G (p.Ala82=)
NM_022051.3(EGLN1):c.24C>A (p.Pro8=) rs766080154
NM_022051.3(EGLN1):c.264C>T (p.Ala88=) rs1060504234
NM_022051.3(EGLN1):c.270C>T (p.Ala90=)
NM_022051.3(EGLN1):c.280A>C (p.Arg94=)
NM_022051.3(EGLN1):c.297C>A (p.Arg99=)
NM_022051.3(EGLN1):c.309C>T (p.Ala103=)
NM_022051.3(EGLN1):c.30G>T (p.Gly10=) rs1337787910
NM_022051.3(EGLN1):c.315G>A (p.Gly105=)
NM_022051.3(EGLN1):c.333A>G (p.Lys111=)
NM_022051.3(EGLN1):c.33G>T (p.Pro11=)
NM_022051.3(EGLN1):c.351G>A (p.Pro117=)
NM_022051.3(EGLN1):c.366G>C (p.Ala122=) rs1352596858
NM_022051.3(EGLN1):c.372_392del (p.Ser125_Ala131del) rs1448568741
NM_022051.3(EGLN1):c.387G>C (p.Ala129=) rs2102947714
NM_022051.3(EGLN1):c.408G>A (p.Ser136=) rs2102947668
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.438G>A (p.Lys146=)
NM_022051.3(EGLN1):c.447G>A (p.Pro149=)
NM_022051.3(EGLN1):c.453C>G (p.Ala151=)
NM_022051.3(EGLN1):c.453C>T (p.Ala151=)
NM_022051.3(EGLN1):c.471G>A (p.Gln157=)
NM_022051.3(EGLN1):c.480G>A (p.Ala160=) rs2102947471
NM_022051.3(EGLN1):c.484C>T (p.Leu162=)
NM_022051.3(EGLN1):c.517C>T (p.Leu173=) rs1656589017
NM_022051.3(EGLN1):c.543C>G (p.Pro181=)
NM_022051.3(EGLN1):c.561C>T (p.Pro187=)
NM_022051.3(EGLN1):c.570G>A (p.Ala190=)
NM_022051.3(EGLN1):c.577C>T (p.Leu193=)
NM_022051.3(EGLN1):c.582G>A (p.Ala194=)
NM_022051.3(EGLN1):c.585C>G (p.Leu195=) rs1467879744
NM_022051.3(EGLN1):c.585C>T (p.Leu195=) rs1467879744
NM_022051.3(EGLN1):c.597G>C (p.Val199=) rs563998083
NM_022051.3(EGLN1):c.612G>A (p.Lys204=)
NM_022051.3(EGLN1):c.618C>A (p.Gly206=)
NM_022051.3(EGLN1):c.63C>T (p.Cys21=)
NM_022051.3(EGLN1):c.687G>A (p.Leu229=)
NM_022051.3(EGLN1):c.6C>T (p.Ala2=) rs2102948442
NM_022051.3(EGLN1):c.718C>T (p.Leu240=)
NM_022051.3(EGLN1):c.756A>G (p.Arg252=)
NM_022051.3(EGLN1):c.768C>T (p.Ile256=)
NM_022051.3(EGLN1):c.771C>G (p.Thr257=)
NM_022051.3(EGLN1):c.771C>T (p.Thr257=)
NM_022051.3(EGLN1):c.789G>A (p.Glu263=)
NM_022051.3(EGLN1):c.792C>T (p.Pro264=)
NM_022051.3(EGLN1):c.813G>A (p.Leu271=)
NM_022051.3(EGLN1):c.831C>T (p.Asp277=)
NM_022051.3(EGLN1):c.834C>T (p.Asp278=)
NM_022051.3(EGLN1):c.855G>A (p.Gly285=)
NM_022051.3(EGLN1):c.891+10T>C
NM_022051.3(EGLN1):c.891+17G>A
NM_022051.3(EGLN1):c.891+8T>C
NM_022051.3(EGLN1):c.892-11_892-6del rs748954220
NM_022051.3(EGLN1):c.892-14_892-12del rs1687895075
NM_022051.3(EGLN1):c.892-15T>C
NM_022051.3(EGLN1):c.892-20C>A
NM_022051.3(EGLN1):c.903T>C (p.Ala301=)
NM_022051.3(EGLN1):c.909T>C (p.Tyr303=) rs2102898250
NM_022051.3(EGLN1):c.912G>A (p.Pro304=)
NM_022051.3(EGLN1):c.954T>C (p.Asn318=)
NM_022051.3(EGLN1):c.96C>T (p.Arg32=)
NM_022051.3(EGLN1):c.972G>A (p.Val324=)
NM_022051.3(EGLN1):c.975A>G (p.Thr325=) rs374733352
NM_022051.3(EGLN1):c.993T>C (p.Asn331=)

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