ClinVar Miner

List of variants studied for Hemochromatosis type 3 by Revvity Omics, Revvity

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) rs201556221 0.00035
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003227.4(TFR2):c.1768-1G>A rs2131312223
NM_003227.4(TFR2):c.1996-2A>C
NM_003227.4(TFR2):c.2093_2096del (p.Arg698fs)
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878

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