ClinVar Miner

List of variants in gene SLC11A2 reported as pathogenic for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val) rs121918367 0.00003
NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) rs121918365 0.00001
NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys) rs121918366
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) rs1592380743
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.675+35A>G

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