ClinVar Miner

List of variants in gene EPOR reported as affects

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Total variants: 7
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HGVS dbSNP
EPOR, 5968_5975DUP
NM_000121.3(EPOR):c.1278C>G (p.Tyr426Ter) rs121917831
NM_000121.3(EPOR):c.1281dup (p.Ile428Tyrfs) rs1555716047
NM_000121.3(EPOR):c.1299_1305delCCAGCTC (p.Gln434Cysfs) rs1555716041
NM_000121.3(EPOR):c.1317G>A (p.Trp439Ter) rs121918116
NM_000121.3(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1288dup (p.Asp430Glyfs) rs1555716045

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