List of variants reported as pathogenic for Hemochromatosis type 1 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	rs1800730	0.01042
NM_213653.4(HJV):c.959G>T (p.Gly320Val)	rs74315323	0.00027
NM_000410.4(HFE):c.277G>C (p.Gly93Arg)	rs28934597	0.00001
NM_000410.4(HFE):c.314T>C (p.Ile105Thr)	rs28934596	0.00001
NM_000410.4(HFE):c.381A>C (p.Gln127His)	rs28934595
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)	rs111033563
NM_000410.4(HFE):c.989G>T (p.Arg330Met)	rs111033558
NM_213653.4(HJV):c.963C>A (p.Cys321Ter)	rs121434374

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