ClinVar Miner

List of variants in gene SLC19A2 reported as uncertain significance for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
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.*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.*1927C>T rs1657926116 0.00001
NM_006996.3(SLC19A2):c.*627C>T rs886045527 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.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.*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.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.518C>G (p.Ser173Cys) rs758126745
NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)
NM_006996.3(SLC19A2):c.808-1G>A rs1557889336
NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) rs886045529

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