ClinVar Miner

List of variants studied for Hemochromatosis type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.892G>T (p.Glu298Ter) rs749553271 0.00002
NM_000410.4(HFE):c.166C>T (p.Gln56Ter)
NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del) rs766992720
NM_000410.4(HFE):c.77-2_78delinsTGGAGTC rs1561939338
NM_000410.4(HFE):c.848A>C (p.Gln283Pro) rs111033563

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