ClinVar Miner

List of variants studied for Protoporphyria, erythropoietic, 1 by Mendelics

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Total variants: 6
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HGVS dbSNP
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000140.5(FECH):c.599-3C>T rs765069812
NM_001012515.3(FECH):c.68-23C>T rs2269219

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