ClinVar Miner

List of variants in gene combination LOC126807125, LOC129992876, SLC39A8 reported as pathogenic for SLC39A8-CDG

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022154.5(SLC39A8):c.[1019T>A];[112G>C]
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
NM_022154.5(SLC39A8):c.[97G>A;1004G>C];[c.610G>T]

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