ClinVar Miner

List of variants reported for Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter) rs1553211899
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe) rs761957186
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs) rs763099442
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs) rs1557894839

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