ClinVar Miner

List of variants studied for Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006996.3(SLC19A2):c.242dup (p.Tyr81Ter) rs752104654 0.00002
NM_006996.3(SLC19A2):c.152C>T (p.Pro51Leu) rs121908540 0.00001
NM_006996.3(SLC19A2):c.515G>A (p.Gly172Asp) rs28937595 0.00001
NM_006996.3(SLC19A2):c.1074G>A (p.Trp358Ter) rs74315375
NM_006996.3(SLC19A2):c.1148_1149del (p.Val383fs) rs1401027751
NM_006996.3(SLC19A2):c.429_430del (p.Ile145fs) rs1571537879
NM_006996.3(SLC19A2):c.484C>T (p.Arg162Ter) rs74315373
NM_006996.3(SLC19A2):c.725del (p.Pro242fs) rs1571537544
NM_006996.3(SLC19A2):c.750G>A (p.Trp250Ter) rs74315374
NM_006996.3(SLC19A2):c.885del (p.Leu296fs) rs1571532822

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