ClinVar Miner

List of variants reported as pathogenic for Deficiency of ferroxidase by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) rs369900671 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NC_000003.12:g.(?_149206148)_(149206359_?)del
NM_000096.4(CP):c.1106del (p.Lys369fs)
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) rs772867888
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
NM_000096.4(CP):c.1317_1318del (p.Gly440fs) rs1727369694
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1613del (p.Met538fs) rs1576759850
NM_000096.4(CP):c.1731del (p.Glu577fs) rs2108244261
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) rs2108230432
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.376_379del (p.Tyr126fs) rs2108301637
NM_000096.4(CP):c.607+1del rs753254095

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