ClinVar Miner

List of variants reported as affects for Primary familial polycythemia due to EPO receptor mutation

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter) rs121917831
NM_000121.4(EPOR):c.1281dup (p.Ile428fs) rs1555716047
NM_000121.4(EPOR):c.1283_1289dup (p.Ser432fs) rs2144694000
NM_000121.4(EPOR):c.1288dup (p.Asp430fs) rs1555716045
NM_000121.4(EPOR):c.1299_1305del (p.Gln434fs) rs1555716041
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter) rs202080221

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