ClinVar Miner

List of variants in gene SLC39A8 reported as pathogenic for SLC39A8-CDG

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile) rs142863074 0.00003
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) rs2149060093

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