ClinVar Miner

List of variants reported as pathogenic for Brown-Vialetto-Van Laere syndrome 1 by Invitae

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Total variants: 3

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HGVS	dbSNP
NC_000020.11:g.(?_761006)_(765794_?)del
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)	rs778363575
NM_033409.4(SLC52A3):c.753del (p.Val252fs)	rs1568721373

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