List of variants reported as pathogenic for SLC39A8-CDG

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Total variants: 8

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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.112G>C (p.Gly38Arg)	rs778210210	0.00002
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn)	rs864309659
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs)	rs2149060093
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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