ClinVar Miner

List of variants in gene SLC52A3 reported as benign for Brown-Vialetto-Van Laere syndrome 1

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Total variants: 13
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HGVS dbSNP
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) rs574008733
NM_033409.4(SLC52A3):c.705C>A (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822

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