ClinVar Miner

List of variants in gene SLC2A1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_006516.4(SLC2A1):c.1104_1105dup (p.Ile369fs)
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.365del (p.Leu122fs) rs2124450330
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.410_411del (p.Thr137fs) rs1570593487
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) rs1057517822
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986

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