ClinVar Miner

List of variants in gene SLC2A1 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=) rs377674001 0.00008
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=) rs780638574 0.00004
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006516.4(SLC2A1):c.1268A>G (p.Gln423Arg) rs587784392 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln) rs587784395 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) rs587784393
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del) rs587784389
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer) rs587784391
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) rs776583130
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile) rs2124450183
NM_006516.4(SLC2A1):c.472A>C (p.Thr158Pro) rs1553156155
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter) rs1345986424
NM_006516.4(SLC2A1):c.516+7T>G rs1325285163
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+4C>A rs139492241
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825

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