ClinVar Miner

List of variants reported as uncertain significance for Familial erythrocytosis

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Total variants: 109
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HGVS dbSNP
NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_000121.4(EPOR):c.*619C>T rs886054191
NM_000121.4(EPOR):c.-68G>A rs886054194
NM_000121.4(EPOR):c.-8G>T rs886054193
NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) rs754708788
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) rs775164142
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro) rs750657898
NM_000121.4(EPOR):c.864C>T (p.Ser288=) rs886054192
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu) rs776698147
NM_001430.5(EPAS1):c.*1134T>C rs886056100
NM_001430.5(EPAS1):c.*117T>A rs886056089
NM_001430.5(EPAS1):c.*1225C>T rs553535570
NM_001430.5(EPAS1):c.*1290C>T rs780890954
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*1620G>C rs886056102
NM_001430.5(EPAS1):c.*1827C>T rs886056103
NM_001430.5(EPAS1):c.*1916C>A rs886056104
NM_001430.5(EPAS1):c.*486C>T rs886056090
NM_001430.5(EPAS1):c.*527G>T rs886056091
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*594A>G rs886056093
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*715_*716AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*833G>A rs539023852
NM_001430.5(EPAS1):c.*983C>A rs886056099
NM_001430.5(EPAS1):c.-102C>G rs886056082
NM_001430.5(EPAS1):c.-111G>C rs530436826
NM_001430.5(EPAS1):c.-138G>T rs886056081
NM_001430.5(EPAS1):c.-200A>C rs886056080
NM_001430.5(EPAS1):c.-231C>G rs750848838
NM_001430.5(EPAS1):c.-255G>T rs886056079
NM_001430.5(EPAS1):c.-316C>A rs886056078
NM_001430.5(EPAS1):c.-452A>C rs886056076
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.-86C>T rs886056083
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.1206G>A (p.Gln402=) rs749851497
NM_001430.5(EPAS1):c.1263C>T (p.Phe421=) rs142534349
NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr) rs149898744
NM_001430.5(EPAS1):c.1554+7G>A rs376028682
NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu) rs201500220
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala) rs886056088
NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu) rs200723248
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val) rs749988999
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=) rs755579146
NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln) rs374829070
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp) rs183095352
NM_001430.5(EPAS1):c.26+8G>A rs750007571
NM_001430.5(EPAS1):c.861G>A (p.Glu287=) rs886056085
NM_001430.5(EPAS1):c.882G>C (p.Gln294His) rs769949241
NM_022051.2(EGLN1):c.*1010C>T rs886046100
NM_022051.2(EGLN1):c.*1185T>C rs775022659
NM_022051.2(EGLN1):c.*1415_*1419delATTTT rs886046099
NM_022051.2(EGLN1):c.*1428_*1429del rs886046098
NM_022051.2(EGLN1):c.*1487C>T rs574739784
NM_022051.2(EGLN1):c.*1731C>T rs759117979
NM_022051.2(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.2(EGLN1):c.*1911C>T rs886046097
NM_022051.2(EGLN1):c.*1965A>G rs185322052
NM_022051.2(EGLN1):c.*2044G>A rs886046096
NM_022051.2(EGLN1):c.*2577G>C rs886046095
NM_022051.2(EGLN1):c.*261_*263del rs886046108
NM_022051.2(EGLN1):c.*421A>G rs886046107
NM_022051.2(EGLN1):c.*535T>G rs886046106
NM_022051.2(EGLN1):c.*555_*559del rs886046105
NM_022051.2(EGLN1):c.*603C>A rs886046104
NM_022051.2(EGLN1):c.*663C>T rs375652885
NM_022051.2(EGLN1):c.*796C>A rs886046103
NM_022051.2(EGLN1):c.*798C>T rs886046102
NM_022051.2(EGLN1):c.*944C>T rs886046101
NM_022051.2(EGLN1):c.*965A>G rs773908732
NM_022051.2(EGLN1):c.-111G>A rs886046113
NM_022051.2(EGLN1):c.-140C>T rs886046114
NM_022051.2(EGLN1):c.-1517A>G rs750706558
NM_022051.2(EGLN1):c.-1661_-1660del rs886046126
NM_022051.2(EGLN1):c.-1809A>G rs748537901
NM_022051.2(EGLN1):c.-1832G>A rs886046127
NM_022051.2(EGLN1):c.-1959G>A rs886046128
NM_022051.2(EGLN1):c.-20T>C rs756211725
NM_022051.2(EGLN1):c.-2169C>T rs886046129
NM_022051.2(EGLN1):c.-2340A>G rs886046130
NM_022051.2(EGLN1):c.-2621G>C rs886046131
NM_022051.2(EGLN1):c.-2695A>G rs886046132
NM_022051.2(EGLN1):c.-2762C>T rs886046133
NM_022051.2(EGLN1):c.-2767G>A rs886046134
NM_022051.2(EGLN1):c.-386C>A rs886046115
NM_022051.2(EGLN1):c.-437C>T rs886046116
NM_022051.2(EGLN1):c.-461C>A rs886046117
NM_022051.2(EGLN1):c.-470C>T rs886046118
NM_022051.2(EGLN1):c.-516A>C rs886046119
NM_022051.2(EGLN1):c.-565C>A rs886046120
NM_022051.2(EGLN1):c.-655G>A rs886046121
NM_022051.2(EGLN1):c.-694C>T rs886046122
NM_022051.2(EGLN1):c.-720C>T rs886046123
NM_022051.2(EGLN1):c.-797C>G rs886046124
NM_022051.2(EGLN1):c.-901T>C rs886046125
NM_022051.2(EGLN1):c.-969G>A rs766034321
NM_022051.2(EGLN1):c.1217-23dup rs371155853
NM_022051.2(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.2(EGLN1):c.359C>T (p.Pro120Leu) rs796280222
NM_022051.2(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.2(EGLN1):c.522C>T (p.Ser174=) rs767045832
NM_022051.2(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.2(EGLN1):c.739T>G (p.Ser247Ala) rs886046109
NM_022051.2(EGLN1):c.975A>T (p.Thr325=) rs374733352

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