ClinVar Miner

List of variants studied for Hemochromatosis type 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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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	0.03738
NM_000410.4(HFE):c.884T>C (p.Val295Ala)	rs143175221	0.00056
NM_000410.4(HFE):c.1006+1G>A	rs573745685	0.00004

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