ClinVar Miner

List of variants in gene SLC39A8 reported as likely pathogenic for central nervous system malformation

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) rs1734625225
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) rs1444255127

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