ClinVar Miner

List of variants in gene SLC39A14 reported as uncertain significance for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001128431.4(SLC39A14):c.1475G>A (p.Gly492Glu) rs142292859 0.00027
NM_001128431.4(SLC39A14):c.661G>A (p.Val221Ile) rs142534611 0.00013
NM_001128431.4(SLC39A14):c.838G>A (p.Gly280Arg) rs111637707 0.00013
NM_001128431.4(SLC39A14):c.1174G>A (p.Gly392Arg) rs143260888 0.00007
NM_001128431.4(SLC39A14):c.866A>C (p.His289Pro) rs1021898754 0.00005
NM_001128431.4(SLC39A14):c.1063A>G (p.Ile355Val) rs773392138 0.00002
NM_001128431.4(SLC39A14):c.1205A>G (p.Asn402Ser) rs1479279165 0.00001
NM_001128431.4(SLC39A14):c.26C>T (p.Ala9Val) rs1226047838 0.00001
NM_001128431.4(SLC39A14):c.417G>T (p.Glu139Asp) rs1034284865 0.00001
NM_001128431.4(SLC39A14):c.458-5G>A rs560026205 0.00001
NM_001128431.4(SLC39A14):c.751C>T (p.His251Tyr) rs895596342 0.00001
NM_001128431.4(SLC39A14):c.985C>T (p.Arg329Cys) rs759893655 0.00001
NM_001128431.4(SLC39A14):c.227G>T (p.Gly76Val)
NM_001128431.4(SLC39A14):c.323G>A (p.Arg108Gln) rs781485871
NM_001128431.4(SLC39A14):c.412GAG[1] (p.Glu139del) rs1563575973
NM_001128431.4(SLC39A14):c.520G>A (p.Val174Met) rs578213115
NM_001128431.4(SLC39A14):c.520G>T (p.Val174Leu)
NM_001128431.4(SLC39A14):c.523G>A (p.Val175Met)
NM_001128431.4(SLC39A14):c.793T>A (p.Ser265Thr) rs2487151392
NM_001128431.4(SLC39A14):c.803A>G (p.Asp268Gly)
NM_001128431.4(SLC39A14):c.97C>A (p.Leu33Met)

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