ClinVar Miner

List of variants in gene SLC2A1 studied for Intellectual disability

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu) rs1570600997
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.286del (p.Met96fs) rs1643481930
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) rs1643480923
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) rs773339124
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu) rs1431778557

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