ClinVar Miner

List of variants reported as uncertain significance for Hemochromatosis type 3 by Natera, Inc.

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.840C>G (p.Phe280Leu) rs151198873 0.00038
NM_003227.4(TFR2):c.2135G>A (p.Arg712Gln) rs201556221 0.00035
NM_003227.4(TFR2):c.287-5G>A rs201206874 0.00034
NM_003227.4(TFR2):c.303C>T (p.Tyr101=) rs376955913 0.00014
NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) rs370714327 0.00007
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr) rs41303480 0.00005
NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg) rs774907552 0.00005
NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys) rs138310236 0.00004
NM_003227.4(TFR2):c.829G>T (p.Val277Leu) rs754813237 0.00004
NM_003227.4(TFR2):c.1626T>C (p.Ser542=) rs781300326 0.00003
NM_003227.4(TFR2):c.1902C>T (p.Ser634=) rs41295918 0.00003
NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser) rs778433259 0.00001
NM_003227.4(TFR2):c.1243G>A (p.Gly415Ser) rs143185818 0.00001
NM_003227.4(TFR2):c.1263A>G (p.Ser421=) rs142005608 0.00001
NM_003227.4(TFR2):c.1450G>A (p.Val484Met) rs533880980 0.00001
NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) rs200053955 0.00001
NM_003227.4(TFR2):c.2054C>T (p.Ala685Val) rs765525964 0.00001
NM_003227.4(TFR2):c.474-5C>T rs1369420781 0.00001
NM_003227.4(TFR2):c.1771G>C (p.Asp591His) rs1060502723
NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) rs1246737417
NM_003227.4(TFR2):c.1920C>T (p.Pro640=) rs539909716
NM_003227.4(TFR2):c.415G>C (p.Asp139His) rs758059366
NM_003227.4(TFR2):c.665A>T (p.Glu222Val) rs763919775
NM_003227.4(TFR2):c.726+10C>T rs1803500633

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