ClinVar Miner

List of variants reported as benign for Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

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Total variants: 12
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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.-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.*1524C>T rs79478264

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