ClinVar Miner

List of variants in gene SLC19A2 studied for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_006996.3(SLC19A2):c.*1246T>G rs181914254 0.00135
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_006996.3(SLC19A2):c.1014C>G (p.Ala338=) rs143780369 0.00086
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu) rs61734338 0.00083
NM_006996.3(SLC19A2):c.1093A>T (p.Thr365Ser) rs150049339 0.00041
NM_006996.3(SLC19A2):c.*51C>G rs376279404 0.00040
NM_006996.3(SLC19A2):c.*1186A>G rs922589020 0.00031
NM_006996.3(SLC19A2):c.*638G>A rs757466309 0.00019
NM_006996.3(SLC19A2):c.212A>G (p.Asn71Ser) rs149595229 0.00017
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe) rs770374931 0.00014
NM_006996.3(SLC19A2):c.*1928T>C rs776987873 0.00010
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069 0.00006
NM_006996.3(SLC19A2):c.*31A>G rs777625943 0.00003
NM_006996.3(SLC19A2):c.*658T>C rs1038511649 0.00003
NM_006996.3(SLC19A2):c.-12C>G rs772886076 0.00003
NM_006996.3(SLC19A2):c.1436T>C (p.Met479Thr) rs374046494 0.00003
NM_006996.3(SLC19A2):c.283C>T (p.Leu95Phe) rs759321228 0.00003
NM_006996.3(SLC19A2):c.487A>T (p.Ser163Cys) rs548333207 0.00003
NM_006996.3(SLC19A2):c.793C>T (p.Pro265Ser) rs17847481 0.00003
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654 0.00002
NM_006996.3(SLC19A2):c.*1927C>T rs1657926116 0.00001
NM_006996.3(SLC19A2):c.*627C>T rs886045527 0.00001
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_006996.3(SLC19A2):c.1008G>A (p.Val336=) rs772129644 0.00001
NM_006996.3(SLC19A2):c.1149G>C (p.Val383=) rs747484241 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_006996.3(SLC19A2):c.807+6C>G rs201700843 0.00001
NM_006996.3(SLC19A2):c.909C>G (p.Ala303=) rs1351692845 0.00001
NM_006996.3(SLC19A2):c.*1349T>C rs1657943320
NM_006996.3(SLC19A2):c.*1493G>A rs886045524
NM_006996.3(SLC19A2):c.*1523A>G rs886045523
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_006996.3(SLC19A2):c.*1539CTGT[1] rs886045522
NM_006996.3(SLC19A2):c.*1543C>G rs1657937297
NM_006996.3(SLC19A2):c.*1588T>G rs886045521
NM_006996.3(SLC19A2):c.*174C>G rs1657969443
NM_006996.3(SLC19A2):c.*1901AATA[1] rs745730912
NM_006996.3(SLC19A2):c.*255A>T rs562829928
NM_006996.3(SLC19A2):c.*390T>G rs886045528
NM_006996.3(SLC19A2):c.*440T>C rs1657963505
NM_006996.3(SLC19A2):c.*712dup rs886045526
NM_006996.3(SLC19A2):c.*898_*899del rs886045525
NM_006996.3(SLC19A2):c.-103G>A rs886045532
NM_006996.3(SLC19A2):c.-163G>T rs886045533
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) rs1401027751
NM_006996.3(SLC19A2):c.1223+1G>A
NM_006996.3(SLC19A2):c.1312C>T (p.Leu438Phe)
NM_006996.3(SLC19A2):c.1327G>A (p.Val443Ile) rs754002628
NM_006996.3(SLC19A2):c.180G>T (p.Pro60=) rs1198335067
NM_006996.3(SLC19A2):c.200G>C (p.Arg67Thr) rs369937650
NM_006996.3(SLC19A2):c.205-25_205-24dup rs755410874
NM_006996.3(SLC19A2):c.205-25dup rs755410874
NM_006996.3(SLC19A2):c.287G>A (p.Arg96His) rs558617037
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.518C>G (p.Ser173Cys) rs758126745
NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) rs1658342879
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.807+2T>G rs1234256852
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) rs1571532822

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