ClinVar Miner

List of variants in gene SLC39A8 studied for SLC39A8-CDG

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001135146.2(SLC39A8):c.552+48C>T rs1462947 0.30373
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.500G>C (p.Gly167Ala) rs1262995015 0.00001
NM_001135146.2(SLC39A8):c.*1062C>T
NM_001135146.2(SLC39A8):c.1372G>C (p.Glu458Gln)
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) rs2149060093
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) rs1734625225
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) rs950101299
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) rs1444255127

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