ClinVar Miner

List of variants in gene SLC2A1 reported as likely pathogenic by Invitae

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val) rs1425773776 0.00001
NM_006516.4(SLC2A1):c.-107G>A rs2124478855
NM_006516.4(SLC2A1):c.1075-16_1076del rs2124446605
NM_006516.4(SLC2A1):c.1198C>A (p.Arg400Ser)
NM_006516.4(SLC2A1):c.1259T>C (p.Met420Thr) rs2124446220
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.227G>T (p.Gly76Val) rs2124450794
NM_006516.4(SLC2A1):c.389G>C (p.Gly130Ala)
NM_006516.4(SLC2A1):c.400G>T (p.Gly134Cys) rs1057518953
NM_006516.4(SLC2A1):c.418G>T (p.Val140Leu)
NM_006516.4(SLC2A1):c.457C>A (p.Arg153Ser)
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.868-2A>C rs2124448423
NM_006516.4(SLC2A1):c.878A>C (p.Tyr293Ser) rs2124448402
NM_006516.4(SLC2A1):c.880T>G (p.Ser294Ala)
NM_006516.4(SLC2A1):c.941G>A (p.Gly314Asp) rs2124448295
NM_006516.4(SLC2A1):c.950A>C (p.Asn317Thr)
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006516.4(SLC2A1):c.982G>C (p.Val328Leu) rs796053255
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063

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