ClinVar Miner

List of variants in gene SLC2A1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
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Total variants: 42
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HGVS dbSNP
NC_000001.11:g.(?_42925375)_(42959176_?)del
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) rs587784393
NM_006516.3(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.3(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.3(SLC2A1):c.1033_1042del (p.Ala345fs) rs1553155973
NM_006516.3(SLC2A1):c.1089del (p.Pro362_Trp363insTer) rs587784391
NM_006516.3(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.3(SLC2A1):c.1261T>C (p.Cys421Arg) rs1557644984
NM_006516.3(SLC2A1):c.1347C>A (p.Tyr449Ter) rs80359828
NM_006516.3(SLC2A1):c.1366A>T (p.Lys456Ter) rs80359829
NM_006516.3(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.3(SLC2A1):c.19-2A>G rs796053272
NM_006516.3(SLC2A1):c.272G>A (p.Gly91Asp) rs80359814
NM_006516.3(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.3(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.3(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061
NM_006516.3(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.3(SLC2A1):c.299dup (p.Asn100fs) rs1557646673
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.3(SLC2A1):c.49G>T (p.Gly17Ter) rs1345986424
NM_006516.3(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.3(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.3(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.3(SLC2A1):c.732del (p.Met244fs) rs1553156069
NM_006516.3(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.3(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047
NM_006516.3(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.3(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.3(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)
NM_006516.4(SLC2A1):c.275+1del
NM_006516.4(SLC2A1):c.293del (p.Met98fs)
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) rs878853161
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
SLC2A1, 12-BP DEL, NT1022
SLC2A1, 3-BP INS, TAT

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