ClinVar Miner

List of variants in gene EPOR studied for Familial erythrocytosis

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Total variants: 34
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HGVS dbSNP
NM_000121.3(EPOR):c.-133T>G rs147119630
NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_000121.4(EPOR):c.*35G>A rs200997864
NM_000121.4(EPOR):c.*425C>T rs140441486
NM_000121.4(EPOR):c.*504G>A rs150535617
NM_000121.4(EPOR):c.*577A>G rs141524122
NM_000121.4(EPOR):c.*619C>T rs886054191
NM_000121.4(EPOR):c.*670G>A rs771124995
NM_000121.4(EPOR):c.*684C>A rs542954029
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.1041G>A (p.Pro347=) rs138884102
NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala) rs35423344
NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) rs199645071
NM_000121.4(EPOR):c.115+7A>G rs192525298
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744
NM_000121.4(EPOR):c.137G>A (p.Gly46Glu) rs45516306
NM_000121.4(EPOR):c.1398T>C (p.Thr466=) rs138190746
NM_000121.4(EPOR):c.1427C>T (p.Ala476Val) rs146937816
NM_000121.4(EPOR):c.1428C>T (p.Ala476=) rs141096553
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) rs775164142
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773
NM_000121.4(EPOR):c.168G>T (p.Arg56=) rs35977803
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943
NM_000121.4(EPOR):c.24C>T (p.Leu8=) rs577368929
NM_000121.4(EPOR):c.438C>T (p.Asp146=) rs114645751
NM_000121.4(EPOR):c.558C>T (p.Ala186=) rs377322757
NM_000121.4(EPOR):c.568G>T (p.Ala190Ser) rs139849355
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro) rs750657898
NM_000121.4(EPOR):c.657C>A (p.Ala219=) rs61729384
NM_000121.4(EPOR):c.864C>T (p.Ser288=) rs886054192
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu) rs776698147

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