ClinVar Miner

List of variants in gene SLC52A3 reported as pathogenic for Brown-Vialetto-van Laere syndrome 1

Included ClinVar conditions (3):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684 0.00002
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) rs890871342 0.00001
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139 0.00001
NC_000020.11:g.(?_761006)_(765794_?)del
NM_033409.4(SLC52A3):c.1198-2A>C rs754753126
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.293G>A (p.Trp98Ter)
NM_033409.4(SLC52A3):c.408C>G (p.Tyr136Ter)
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp) rs749668781
NM_033409.4(SLC52A3):c.481_484dup (p.Gly162fs) rs1383679424
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.51G>A (p.Trp17Ter)
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
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.753del (p.Val252fs) rs1568721373
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
NM_033409.4(SLC52A3):c.790_791del (p.Ser264fs)
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.4(SLC52A3):c.853C>T (p.Gln285Ter)
NM_033409.4(SLC52A3):c.85del (p.Leu29fs) rs1986662202

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