ClinVar Miner

List of variants studied for SLC39A8-CDG by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001135146.2(SLC39A8):c.1166A>G (p.Asn389Ser) rs146759817 0.00032
NM_001135146.2(SLC39A8):c.500G>C (p.Gly167Ala) rs1262995015 0.00001

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