ClinVar Miner

List of variants in gene SLC16A2 reported as pathogenic by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961

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