ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) rs776667122
NM_033409.4(SLC52A3):c.1198-6C>T rs778730226
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=) rs772196630
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=) rs1372014420
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059
NM_033409.4(SLC52A3):c.303C>T (p.Asp101=) rs137861276
NM_033409.4(SLC52A3):c.30C>T (p.Cys10=) rs201545356
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=) rs551722690
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=) rs377618514
NM_033409.4(SLC52A3):c.525C>T (p.Ser175=) rs143641819
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967
NM_033409.4(SLC52A3):c.54G>A (p.Val18=) rs1418731782
NM_033409.4(SLC52A3):c.615C>T (p.Pro205=) rs771572751
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=) rs183391382
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=) rs145498634
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) rs532778217
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) rs139430185
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378

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