ClinVar Miner

List of variants in gene SLC39A8 reported as uncertain significance for central nervous system malformation

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
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.337T>C (p.Cys113Arg) rs950101299

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