ClinVar Miner

List of variants in gene EPOR reported by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745 0.00627
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744 0.00253
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) rs121917830
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) rs121918116

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