ClinVar Miner

List of variants in gene SLC52A3 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=) rs910857 0.68551
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=) rs3746805 0.37656
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=) rs3746808 0.26517
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu) rs3746804 0.18642
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=) rs3746807 0.10172
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val) rs3746802 0.09243
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=) rs6054605 0.06184
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836 0.01265
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990 0.00815
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439 0.00220
NM_033409.4(SLC52A3):c.-14_-6del rs11467076
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.833C>T (p.Thr278Met) rs3746803

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