ClinVar Miner

List of variants studied for Autosomal erythropoietic protoporphyria

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs) rs2511517215
NM_000140.5(FECH):c.47del (p.Gly16fs) rs2051380165

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