ClinVar Miner

List of variants reported as pathogenic for Hypermanganesemia with dystonia, polycythemia, and cirrhosis by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs) rs281860292
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro) rs281860284
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del) rs281860285
NM_018713.3(SLC30A10):c.507del (p.Pro170fs) rs281860287
NM_018713.3(SLC30A10):c.585del (p.Thr196fs) rs281860288

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