ClinVar Miner

List of variants studied for Hemochromatosis type 1 by Genome-Nilou Lab

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.1007-47G>A rs1572982 0.52187
NM_000410.4(HFE):c.340+4T>C rs2071303 0.36484
NM_000410.4(HFE):c.189T>C (p.His63=) rs147426902 0.00305
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000410.4(HFE):c.50C>T (p.Thr17Ile) rs143662783 0.00044
NM_000410.4(HFE):c.496A>G (p.Lys166Glu) rs144170531 0.00023
NM_000410.4(HFE):c.670C>T (p.Arg224Trp) rs144797937 0.00013
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.40C>G (p.Leu14Val) rs201657128 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_000410.4(HFE):c.196C>T (p.Arg66Cys) rs747739169 0.00001
NM_000410.4(HFE):c.211C>T (p.Arg71Ter) rs759524388 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001

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