List of variants in gene HFE reported as pathogenic for Hemochromatosis type 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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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.193A>T (p.Ser65Cys)	rs1800730	0.00992
NM_000410.4(HFE):c.211C>T (p.Arg71Ter)	rs759524388	0.00001
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.1022_1034del (p.His341fs)	rs1199530060
NM_000410.4(HFE):c.166C>T (p.Gln56Ter)
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

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