ClinVar Miner

List of variants in gene SLC19A2 reported as pathogenic for anemia (disease)

Included ClinVar conditions (263):
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
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.1146_1147TG[1] (p.Val383fs)
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter)
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs)
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839
NM_006996.3(SLC19A2):c.725del (p.Pro242fs)
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs)

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