ClinVar Miner

List of variants studied for Myopia 24, autosomal dominant

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_173596.3(SLC39A5):c.-14T>C rs1274497 0.99669
NM_173596.3(SLC39A5):c.1121G>C (p.Ser374Thr) rs74812296 0.01466
NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter) rs199624584 0.00006
NM_173596.3(SLC39A5):c.1128del (p.His377fs) rs1403479516
NM_173596.3(SLC39A5):c.1495C>T (p.Arg499Cys)
NM_173596.3(SLC39A5):c.227dup (p.Gln77fs) rs1356255450
NM_173596.3(SLC39A5):c.911T>C (p.Met304Thr) rs587777625
NM_173596.3(SLC39A5):c.964C>T (p.Arg322Ter) rs148112570

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