ClinVar Miner

List of variants studied for hypochromic anemia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000617.3(SLC11A2):c.*1031G>A rs150909 0.90829
NM_000617.3(SLC11A2):c.1576-14A>G rs161044 0.90828
NM_000617.3(SLC11A2):c.-110G>T rs6580779 0.90822
NM_000617.3(SLC11A2):c.35-498A>C rs445520 0.90819
NM_000617.3(SLC11A2):c.*1876T>C rs149411 0.53019
NM_000617.3(SLC11A2):c.34+11G>A rs427020 0.46181
NM_000617.3(SLC11A2):c.*390G>A rs224446 0.16154
NM_000617.3(SLC11A2):c.*358A>G rs2285230 0.14298
NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=) rs1048230 0.14293
NM_000617.3(SLC11A2):c.*1273G>A rs11169654 0.14282
NM_000617.3(SLC11A2):c.607+12G>A rs224454 0.14139
NM_000617.3(SLC11A2):c.*1215A>C rs17125172 0.05066
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04529
NM_000617.3(SLC11A2):c.34+6T>G rs17216107 0.01065
NM_000617.3(SLC11A2):c.*1261G>A rs60725885 0.00753
NM_000617.3(SLC11A2):c.*872A>C rs73297974 0.00752
NM_000617.3(SLC11A2):c.-78G>A rs2301528 0.00652
NM_000617.3(SLC11A2):c.*1486G>T rs116731209 0.00538
NM_000617.3(SLC11A2):c.*789G>A rs79206015 0.00538
NM_000617.3(SLC11A2):c.184T>C (p.Tyr62His) rs17222470 0.00534
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705 0.00453
NM_000617.3(SLC11A2):c.*1058G>A rs41398049 0.00427
NM_000617.3(SLC11A2):c.1303C>A (p.Leu435Ile) rs144863268 0.00222
NM_000617.3(SLC11A2):c.832-3T>C rs201248826 0.00193
NM_000617.3(SLC11A2):c.893T>C (p.Ile298Thr) rs17216051 0.00155
NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) rs145155499 0.00145
NM_000617.3(SLC11A2):c.*546G>A rs193030246 0.00126
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn) rs141728916 0.00118
NM_000617.3(SLC11A2):c.-39+5G>C rs180796770 0.00105
NM_000617.3(SLC11A2):c.*11G>A rs201382454 0.00091
NM_000617.3(SLC11A2):c.255G>T (p.Leu85=) rs17216072 0.00041
NM_000617.3(SLC11A2):c.15T>C (p.Pro5=) rs192462172 0.00040
NM_000617.3(SLC11A2):c.*1949A>G rs72561485 0.00036
NM_000617.3(SLC11A2):c.1425C>T (p.Gly475=) rs139057918 0.00032
NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val) rs148582995 0.00031
NM_000617.3(SLC11A2):c.*716G>A rs571129669 0.00029
NM_000617.3(SLC11A2):c.*1795G>A rs750648046 0.00022
NM_000617.3(SLC11A2):c.*1057C>T rs767436028 0.00021
NM_000617.3(SLC11A2):c.*2332A>T rs575495762 0.00014
NM_000617.3(SLC11A2):c.1032C>G (p.Leu344=) rs370750890 0.00013
NM_000617.3(SLC11A2):c.*153A>G rs146016854 0.00012
NM_000617.3(SLC11A2):c.1348-10T>C rs189993499 0.00012
NM_000617.3(SLC11A2):c.-50G>A rs886049570 0.00010
NM_000617.3(SLC11A2):c.-39G>A rs751410203 0.00009
NM_000617.3(SLC11A2):c.*1739C>T rs766628921 0.00008
NM_000617.3(SLC11A2):c.*1599C>T rs886049559 0.00006
NM_000617.3(SLC11A2):c.*415G>A rs765348165 0.00006
NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=) rs761505350 0.00006
NM_000617.3(SLC11A2):c.290G>C (p.Gly97Ala) rs138686455 0.00005
NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser) rs769742722 0.00005
NM_001174125.2(SLC11A2):c.49+1746C>T rs886763852 0.00005
NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr) rs550969378 0.00004
NM_000617.3(SLC11A2):c.523C>T (p.Leu175=) rs373590039 0.00004
NM_000617.3(SLC11A2):c.*1007A>G rs886049560 0.00003
NM_000617.3(SLC11A2):c.*1559G>T rs777649881 0.00003
NM_000617.3(SLC11A2):c.*1902C>G rs886049558 0.00003
NM_000617.3(SLC11A2):c.1206G>A (p.Leu402=) rs761054843 0.00003
NM_000617.3(SLC11A2):c.514A>G (p.Ile172Val) rs886049568 0.00003
NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val) rs121918367 0.00003
NM_000617.3(SLC11A2):c.*1360A>G rs573581505 0.00002
NM_000617.3(SLC11A2):c.*420G>A rs886049564 0.00002
NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu) rs376365060 0.00002
NM_000617.3(SLC11A2):c.921C>T (p.Ser307=) rs762100462 0.00002
NM_000617.3(SLC11A2):c.*1367T>C rs1235162595 0.00001
NM_000617.3(SLC11A2):c.*1615T>C rs557225035 0.00001
NM_000617.3(SLC11A2):c.*32A>G rs886049565 0.00001
NM_000617.3(SLC11A2):c.*985G>A rs886049562 0.00001
NM_000617.3(SLC11A2):c.*986C>A rs886049561 0.00001
NM_000617.3(SLC11A2):c.-96C>T rs747408183 0.00001
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365 0.00001
NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg) rs1229345464 0.00001
NM_000617.3(SLC11A2):c.1596A>C (p.Ala532=) rs760783598 0.00001
NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile) rs1469622244 0.00001
NM_000617.3(SLC11A2):c.647C>T (p.Thr216Ile) rs886049567 0.00001
NM_001174125.2(SLC11A2):c.49+1791C>T rs920922103 0.00001
NM_000617.3(SLC11A2):c.*1444C>T rs946003076
NM_000617.3(SLC11A2):c.*1466dup rs561463670
NM_000617.3(SLC11A2):c.*1752dup rs755515112
NM_000617.3(SLC11A2):c.*2083_*2084del rs886049557
NM_000617.3(SLC11A2):c.*2289G>T rs867212578
NM_000617.3(SLC11A2):c.*2320del rs141968385
NM_000617.3(SLC11A2):c.*295G>A rs1940770079
NM_000617.3(SLC11A2):c.*970A>G rs886049563
NM_000617.3(SLC11A2):c.-38-3C>T rs886049569
NM_000617.3(SLC11A2):c.-39+12G>A rs1944384418
NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys) rs121918366
NM_000617.3(SLC11A2):c.1421+8T>A rs886049566
NM_000617.3(SLC11A2):c.1576-7C>G rs1940818391
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
NM_000617.3(SLC11A2):c.309+44A>C rs224589
NM_000617.3(SLC11A2):c.310-5_310-3del rs1399911403
NM_000617.3(SLC11A2):c.341_343del (p.Val114del) rs2136280484
NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly) rs774857007
NM_000617.3(SLC11A2):c.578C>T (p.Thr193Ile)
NM_000617.3(SLC11A2):c.675+35A>G
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) rs1592344306
NM_000617.3(SLC11A2):c.828C>G (p.Val276=) rs754854640
NM_001174125.2(SLC11A2):c.49+1757C>T rs1057516023
NM_182915.3(STEAP3):c.330C>A (p.Cys110Ter) rs587776963

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