ClinVar Miner

List of variants in gene TMPRSS6 reported as uncertain significance for Iron-refractory iron deficiency anemia

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys) rs116092750 0.00162
NM_001374504.1(TMPRSS6):c.844G>A (p.Gly282Ser) rs145053404 0.00081
NM_001374504.1(TMPRSS6):c.262C>T (p.Arg88Cys) rs143182343 0.00035
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) rs139489941 0.00033
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu) rs375189210 0.00024
NM_001374504.1(TMPRSS6):c.2128G>A (p.Ala710Thr) rs146767495 0.00019
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val) rs200558933 0.00016
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys) rs752163489 0.00004
NM_001374504.1(TMPRSS6):c.808G>A (p.Gly270Arg) rs771756917 0.00001
NM_001374504.1(TMPRSS6):c.1396G>A (p.Asp466Asn) rs2517741970
NM_001374504.1(TMPRSS6):c.1655C>T (p.Ser552Leu) rs143441292
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs) rs1416004303
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys) rs2146149841
NM_001374504.1(TMPRSS6):c.836+1G>A rs757356137

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