ClinVar Miner

List of variants studied for SLC39A8-CDG by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001135146.2(SLC39A8):c.*1062C>T
NM_001135146.2(SLC39A8):c.1097dup (p.Leu366fs) rs1553911693
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)

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