ClinVar Miner

List of variants reported as benign for familial polycythemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NC_000003.12:g.10141653G>A rs779805 0.56161
NM_001430.5(EPAS1):c.218-9C>T rs75984373 0.47004
NM_022051.2(EGLN1):c.-2586T>C rs2153364 0.18403
NM_022051.2(EGLN1):c.-1592T>C rs12406290 0.18375
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970 0.17782
NM_022051.2(EGLN1):c.-2592T>G rs1361383 0.16943
NM_022051.2(EGLN1):c.-2599T>C rs1361384 0.16701
NM_022051.2(EGLN1):c.-2923C>T rs1339894 0.16688
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser) rs12097901 0.15191
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247 0.14073
NM_022051.2(EGLN1):c.-1706T>C rs7544596 0.12544
NM_001430.5(EPAS1):c.780-15T>A rs17035079 0.06797
NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala) rs35423344 0.06184
NM_001430.5(EPAS1):c.*853G>A rs10495933 0.05328
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065 0.04391
NM_001430.5(EPAS1):c.*1239A>G rs11539645 0.04346
NM_001430.5(EPAS1):c.*1276G>A rs1868091 0.04042
NM_022051.3(EGLN1):c.*1880A>T rs13239 0.03362
NM_022051.3(EGLN1):c.*989T>C rs7550833 0.03358
NM_001430.5(EPAS1):c.-471C>T rs17039192 0.02657
NM_001430.5(EPAS1):c.1908T>C (p.Asn636=) rs35606117 0.02613
NM_022051.2(EGLN1):c.-2448A>C rs114449367 0.02248
NM_022051.2(EGLN1):c.-544C>T rs188879504 0.02224
NM_022051.2(EGLN1):c.-536C>T rs184124593 0.02173
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.471G>C (p.Gln157His) rs61750991 0.01830
NM_022051.3(EGLN1):c.*2061C>G rs116262857 0.01601
NM_001430.5(EPAS1):c.*354G>C rs116385387 0.01554
NM_022051.2(EGLN1):c.-698G>A rs80010432 0.01338
NM_022051.2(EGLN1):c.-619C>G rs114235192 0.01283
NM_022051.3(EGLN1):c.*1919T>C rs41303095 0.01276
NM_022051.3(EGLN1):c.*2235C>G rs191867 0.01199
NM_001430.5(EPAS1):c.1833C>T (p.Ala611=) rs41281469 0.01075
NM_000551.4(VHL):c.340+648T>C rs73024533 0.01009
NM_001430.5(EPAS1):c.*208T>C rs139675215 0.01006
NM_022051.2(EGLN1):c.-420C>G rs533281866 0.00989
NM_000121.4(EPOR):c.*504G>A rs150535617 0.00963
NM_001430.5(EPAS1):c.*111A>G rs62137032 0.00937
NM_001430.5(EPAS1):c.-140G>A rs147597862 0.00873
NM_001430.5(EPAS1):c.*349T>C rs72797432 0.00872
NM_001430.5(EPAS1):c.*1272C>T rs115678594 0.00805
NM_001430.5(EPAS1):c.*1207A>C rs116816939 0.00637
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_001430.5(EPAS1):c.*1724G>A rs114927662 0.00564
NM_022051.2(EGLN1):c.-2735G>A rs12094665 0.00522
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_000121.4(EPOR):c.137G>A (p.Gly46Glu) rs45516306 0.00438
NM_000121.4(EPOR):c.657C>A (p.Ala219=) rs61729384 0.00414
NM_022051.3(EGLN1):c.*2096T>C rs141735901 0.00396
NM_001430.5(EPAS1):c.*54C>T rs142847751 0.00392
NM_001430.5(EPAS1):c.*602G>C rs78271294 0.00390
NM_001430.5(EPAS1):c.*808C>A rs368430355 0.00370
NM_000121.4(EPOR):c.-55G>A rs140630699 0.00345
NM_001430.5(EPAS1):c.1737G>A (p.Pro579=) rs184760160 0.00340
NM_001430.5(EPAS1):c.574-11G>A rs199730851 0.00336
NM_001430.5(EPAS1):c.*1566T>C rs111528756 0.00292
NM_022051.2(EGLN1):c.-2709C>T rs373140957 0.00292
NM_001430.5(EPAS1):c.*575A>C rs112556309 0.00288
NM_022051.3(EGLN1):c.*452A>G rs186972462 0.00277
NM_022051.2(EGLN1):c.-2369C>T rs149120358 0.00268
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744 0.00253
NM_001430.5(EPAS1):c.*1614C>T rs112500820 0.00248
NM_022051.2(EGLN1):c.-2345G>C rs145066596 0.00239
NM_022051.2(EGLN1):c.-2696G>A rs147783454 0.00238
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys) rs73926269 0.00223
NM_001430.5(EPAS1):c.*842A>C rs143059873 0.00221
NM_001430.5(EPAS1):c.2457G>A (p.Val819=) rs149994721 0.00213
NM_001430.5(EPAS1):c.779+8G>T rs201393458 0.00212
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=) rs143991968 0.00206
NM_022051.3(EGLN1):c.*2598G>A rs77496832 0.00195
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_022051.3(EGLN1):c.1272C>T (p.Asp424=) rs61734647 0.00188
NM_022051.2(EGLN1):c.-1212A>G rs41310557 0.00183
NM_000121.4(EPOR):c.438C>T (p.Asp146=) rs114645751 0.00182
NM_000121.4(EPOR):c.168G>T (p.Arg56=) rs35977803 0.00181
NM_022051.2(EGLN1):c.-2419G>C rs188721782 0.00173
NM_022051.3(EGLN1):c.*622A>G rs183632912 0.00152
NM_022051.2(EGLN1):c.-1609G>A rs41303113 0.00149
NM_000121.4(EPOR):c.*425C>T rs140441486 0.00118
NM_000121.4(EPOR):c.1398T>C (p.Thr466=) rs138190746 0.00118
NC_000003.12:g.10141751T>G rs34271731 0.00106
NM_000551.4(VHL):c.-5A>C rs35793832 0.00106
NM_000121.4(EPOR):c.296C>T (p.Ala99Val) rs146235694 0.00098
NM_000121.4(EPOR):c.1041G>A (p.Pro347=) rs138884102 0.00093
NM_022051.2(EGLN1):c.-2203T>C rs184200552 0.00091
NM_022051.2(EGLN1):c.-2456A>G rs541100189 0.00084
NM_022051.3(EGLN1):c.*1199A>G rs185930120 0.00080
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_022051.3(EGLN1):c.891+17G>C rs200793131 0.00076
NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) rs199645071 0.00071
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001430.5(EPAS1):c.*512A>G rs186340714 0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_022051.3(EGLN1):c.*1288C>T rs578226800 0.00061
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001430.5(EPAS1):c.*262A>G rs188117114 0.00049
NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu) rs147839743 0.00049
NM_000121.4(EPOR):c.*35G>A rs200997864 0.00046
NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr) rs149898744 0.00045
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_022051.2(EGLN1):c.-786G>A rs190966487 0.00038
NM_000551.4(VHL):c.340+679T>G rs866935879 0.00037
NM_001430.5(EPAS1):c.1077T>C (p.Thr359=) rs149190271 0.00030
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu) rs200723248 0.00024
NM_000121.4(EPOR):c.*670G>A rs771124995 0.00018
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn) rs201365992 0.00018
NM_000121.4(EPOR):c.115+7A>G rs192525298 0.00016
NM_022051.3(EGLN1):c.*575A>T rs373743992 0.00016
NM_022051.3(EGLN1):c.354C>T (p.Ala118=) rs1370030808 0.00016
NM_000121.4(EPOR):c.*32T>C rs199784763 0.00014
NM_000121.4(EPOR):c.558C>T (p.Ala186=) rs377322757 0.00013
NM_001430.5(EPAS1):c.*1275C>A rs554001260 0.00013
NM_000551.4(VHL):c.*70C>T rs552290225 0.00011
NM_001430.5(EPAS1):c.1035-6C>G rs187543960 0.00009
NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu) rs201500220 0.00009
NM_022051.3(EGLN1):c.843C>T (p.Arg281=) rs143108243 0.00009
NM_001430.5(EPAS1):c.574-5C>G rs150877473 0.00007
NM_001430.5(EPAS1):c.993C>T (p.Asn331=) rs200678705 0.00007
NM_000551.4(VHL):c.340+837A>G rs190906863 0.00006
NM_001430.5(EPAS1):c.1228G>A (p.Ala410Thr) rs539540390 0.00006
NM_001430.5(EPAS1):c.1658C>T (p.Ala553Val) rs201311893 0.00006
NM_000551.4(VHL):c.340+621T>C rs562162481 0.00005
NM_000121.4(EPOR):c.*684C>A rs542954029 0.00004
NM_001430.5(EPAS1):c.2473C>T (p.Arg825Trp) rs753610303 0.00004
NM_001430.5(EPAS1):c.26+7G>C rs764477794 0.00004
NM_001430.5(EPAS1):c.345C>T (p.Ile115=) rs542625493 0.00004
NM_001430.5(EPAS1):c.858C>T (p.Ser286=) rs567851666 0.00003
NM_022051.3(EGLN1):c.1011+7A>G rs199507950 0.00003
NM_022051.3(EGLN1):c.832G>A (p.Asp278Asn) rs371536347 0.00003
NM_000551.4(VHL):c.340+724G>C rs900590059 0.00002
NM_001430.5(EPAS1):c.*1878T>C rs570138573 0.00002
NM_000121.4(EPOR):c.251+7C>A rs199788179 0.00001
NM_000551.4(VHL):c.340+595C>T rs1335472800 0.00001
NM_001430.5(EPAS1):c.2010T>C (p.Pro670=) rs568216381 0.00001
NM_001430.5(EPAS1):c.2276A>G (p.Asn759Ser) rs189263322 0.00001
NM_001430.5(EPAS1):c.768C>T (p.Tyr256=) rs374493349 0.00001
NM_022051.3(EGLN1):c.1216+7G>A rs541795999 0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=) rs766985056 0.00001
NM_000121.4(EPOR):c.*577A>G rs141524122
NM_000121.4(EPOR):c.1427C>T (p.Ala476Val) rs146937816
NM_000121.4(EPOR):c.568G>T (p.Ala190Ser) rs139849355
NM_000551.4(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.4(VHL):c.463+20dup
NM_000551.4(VHL):c.463+37_463+39del rs869025658
NM_001430.5(EPAS1):c.*1260T>C rs148215665
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-58dup rs200720368
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_001430.5(EPAS1):c.2113A>G (p.Lys705Glu) rs759045547
NM_001430.5(EPAS1):c.2166G>A (p.Leu722=) rs147304489
NM_001430.5(EPAS1):c.218-10C>A rs55792993
NM_001430.5(EPAS1):c.218-11C>G rs75591953
NM_001430.5(EPAS1):c.218-11C>T rs75591953
NM_001430.5(EPAS1):c.218-12C>A rs202210836
NM_001430.5(EPAS1):c.218-12C>T rs202210836
NM_022051.2(EGLN1):c.-2450T>G rs143021749
NM_022051.2(EGLN1):c.-3142dupA rs111995599
NM_022051.2(EGLN1):c.-531A>C rs113172460
NM_022051.2(EGLN1):c.-531A>G rs113172460
NM_022051.3(EGLN1):c.*648del rs149920332
NM_022051.3(EGLN1):c.-379A>C rs533584823
NM_022051.3(EGLN1):c.-379A>T rs533584823
NM_022051.3(EGLN1):c.1011+15T>C
NM_022051.3(EGLN1):c.1217-10del rs371155853
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)

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