ClinVar Miner

List of variants reported as uncertain significance for Hemochromatosis type 3

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) rs144665594 0.00184
NM_003227.4(TFR2):c.*142G>A rs578087339 0.00155
NM_003227.4(TFR2):c.2172A>G (p.Pro724=) rs141140309 0.00121
NM_003227.4(TFR2):c.473+8T>A rs148902192 0.00103
NM_003227.4(TFR2):c.727-9T>A rs200816061 0.00103
NM_003227.4(TFR2):c.1097G>A (p.Arg366His) rs184812195 0.00078
NM_003227.4(TFR2):c.1682+11G>C rs372807620 0.00054
NM_003227.4(TFR2):c.381C>A (p.Asp127Glu) rs145795884 0.00045
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.286+15C>T rs372078098 0.00029
NM_003227.4(TFR2):c.1259G>A (p.Arg420His) rs146901123 0.00019
NM_003227.4(TFR2):c.224C>T (p.Ala75Val) rs41302357 0.00014
NM_003227.4(TFR2):c.303C>T (p.Tyr101=) rs376955913 0.00014
NM_003227.4(TFR2):c.64G>A (p.Val22Ile) rs80338876 0.00014
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00013
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_003227.4(TFR2):c.1252G>A (p.Glu418Lys) rs139383159 0.00010
NM_003227.4(TFR2):c.1620C>T (p.Asn540=) rs199600701 0.00010
NM_003227.4(TFR2):c.726+9C>T rs372020405 0.00010
NM_003227.4(TFR2):c.1747G>A (p.Val583Ile) rs370375593 0.00009
NM_003227.4(TFR2):c.2367G>A (p.Ala789=) rs374766778 0.00009
NM_003227.4(TFR2):c.29G>C (p.Arg10Thr) rs370714327 0.00007
NM_003227.4(TFR2):c.*141C>T rs752115611 0.00006
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu) rs772659158 0.00006
NM_003227.4(TFR2):c.1090G>A (p.Ala364Thr) rs41303480 0.00005
NM_003227.4(TFR2):c.1279G>A (p.Val427Ile) rs762216388 0.00005
NM_003227.4(TFR2):c.1683-4C>T rs201936620 0.00005
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg) rs774907552 0.00005
NM_003227.4(TFR2):c.*220C>T rs560786834 0.00004
NM_003227.4(TFR2):c.-8A>T rs146487147 0.00004
NM_003227.4(TFR2):c.1329C>T (p.Ser443=) rs368298121 0.00004
NM_003227.4(TFR2):c.2071G>A (p.Glu691Lys) rs138310236 0.00004
NM_003227.4(TFR2):c.2336T>C (p.Leu779Pro) rs372198326 0.00004
NM_003227.4(TFR2):c.674C>T (p.Pro225Leu) rs775428895 0.00004
NM_003227.4(TFR2):c.829G>T (p.Val277Leu) rs754813237 0.00004
NM_003227.4(TFR2):c.906G>A (p.Ala302=) rs146024580 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.1682+4A>C rs756044574 0.00002
NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg) rs758539890 0.00002
NM_003227.4(TFR2):c.2078A>C (p.Tyr693Ser) rs1267593985 0.00002
NM_003227.4(TFR2):c.2175C>T (p.Ala725=) rs747347518 0.00002
NM_003227.4(TFR2):c.427A>C (p.Met143Leu) rs757241440 0.00002
NM_003227.4(TFR2):c.*280A>C rs1314233014 0.00001
NM_003227.4(TFR2):c.*435T>C rs1373127732 0.00001
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.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_003227.4(TFR2):c.134C>T (p.Ala45Val) rs769555821 0.00001
NM_003227.4(TFR2):c.1450G>A (p.Val484Met) rs533880980 0.00001
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) rs150618729 0.00001
NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) rs200053955 0.00001
NM_003227.4(TFR2):c.1875C>T (p.Leu625=) rs778534889 0.00001
NM_003227.4(TFR2):c.1956G>A (p.Arg652=) rs1170988281 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.557A>C (p.Gln186Pro) rs375882473 0.00001
NM_003227.4(TFR2):c.615-12C>T rs771264157 0.00001
NM_003227.4(TFR2):c.617C>A (p.Ala206Asp) rs756655285 0.00001
NM_003227.4(TFR2):c.*1G>A rs763463474
NM_003227.4(TFR2):c.*208C>T rs759379957
NM_003227.4(TFR2):c.*55G>A rs986107376
NM_003227.4(TFR2):c.1167T>C (p.Tyr389=) rs1803415263
NM_003227.4(TFR2):c.140C>T (p.Thr47Ile) rs886061834
NM_003227.4(TFR2):c.1473+13C>G rs200201634
NM_003227.4(TFR2):c.1486G>A (p.Val496Met) rs777532178
NM_003227.4(TFR2):c.1575G>A (p.Leu525=) rs886061833
NM_003227.4(TFR2):c.1682+9G>T rs41295906
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.190T>C (p.Ser64Pro) rs1639890217
NM_003227.4(TFR2):c.1920C>T (p.Pro640=) rs539909716
NM_003227.4(TFR2):c.1974C>T (p.Asn658=) rs1803289281
NM_003227.4(TFR2):c.2043C>T (p.Tyr681=) rs1803271304
NM_003227.4(TFR2):c.2248C>G (p.Leu750Val) rs1803091207
NM_003227.4(TFR2):c.233G>T (p.Gly78Val) rs763004927
NM_003227.4(TFR2):c.415G>C (p.Asp139His) rs758059366
NM_003227.4(TFR2):c.474-7C>T rs1803512794
NM_003227.4(TFR2):c.665A>T (p.Glu222Val) rs763919775
NM_003227.4(TFR2):c.726+10C>T rs1803500633
NM_003227.4(TFR2):c.759C>A (p.Pro253=) rs765746785
NM_003227.4(TFR2):c.822C>T (p.Arg274=) rs1262970273

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