ClinVar Miner

List of variants studied for Brown-Vialetto-Van Laere syndrome 1 by OMIM

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Total variants: 9
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HGVS dbSNP
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) rs794728004
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688

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