ClinVar Miner

List of variants in gene SLC2A1 reported as likely pathogenic

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Total variants: 107
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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.1373G>A (p.Arg458Gln) rs752143706 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val) rs753161833 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr) rs796053252 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.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.4(SLC2A1):c.1075-16_1076del rs2124446605
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu) rs1570600997
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser) rs2124446500
NM_006516.4(SLC2A1):c.1148C>T (p.Pro383Leu) rs1057521632
NM_006516.4(SLC2A1):c.1154C>T (p.Pro385Leu) rs1553155891
NM_006516.4(SLC2A1):c.1198C>A (p.Arg400Ser)
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) rs1570590905
NM_006516.4(SLC2A1):c.1202C>T (p.Pro401Leu) rs1643441930
NM_006516.4(SLC2A1):c.1229_1234del (p.Ser410_Asn411del) rs1553155880
NM_006516.4(SLC2A1):c.1234T>C (p.Trp412Arg) rs1570590859
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.4(SLC2A1):c.1256G>T (p.Gly419Val) rs139722450
NM_006516.4(SLC2A1):c.1259T>C (p.Met420Thr) rs2124446220
NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile)
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu) rs1570590834
NM_006516.4(SLC2A1):c.1271del (p.Tyr424fs) rs2124446193
NM_006516.4(SLC2A1):c.1279-1G>C
NM_006516.4(SLC2A1):c.1279-2A>G rs2124445695
NM_006516.4(SLC2A1):c.1279C>T (p.Gln427Ter) rs1553155843
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val) rs1570590528
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1373G>C (p.Arg458Pro)
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.19-1G>A
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val) rs2124450819
NM_006516.4(SLC2A1):c.227G>T (p.Gly76Val) rs2124450794
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.276-2A>G
NM_006516.4(SLC2A1):c.286del (p.Met96fs) rs1643481930
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.292_306del (p.Met98_Leu102del) rs2124450429
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.339del (p.Lys114fs) rs1643480923
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.389G>C (p.Gly130Ala)
NM_006516.4(SLC2A1):c.398_399delinsTT (p.Cys133Phe) rs1553156161
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.400G>T (p.Gly134Cys) rs1057518953
NM_006516.4(SLC2A1):c.417del (p.Phe139fs)
NM_006516.4(SLC2A1):c.418G>T (p.Val140Leu)
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile) rs2124450183
NM_006516.4(SLC2A1):c.457C>A (p.Arg153Ser)
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro) rs794727642
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.4(SLC2A1):c.482A>G (p.Gln161Arg) rs1553156154
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg) rs773339124
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg) rs1345986424
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg) rs1085308009
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro) rs2124449372
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser) rs796053247
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe) rs1570592813
NM_006516.4(SLC2A1):c.679+1G>A rs1553156086
NM_006516.4(SLC2A1):c.679+5G>T rs771386274
NM_006516.4(SLC2A1):c.680-3C>G rs112081052
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) rs2124449089
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.707A>T (p.Asp236Val) rs796053249
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val) rs2124449030
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr) rs1064795363
NM_006516.4(SLC2A1):c.731T>G (p.Met244Arg) rs1064795363
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
NM_006516.4(SLC2A1):c.741G>C (p.Glu247Asp) rs80359821
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro) rs2124448826
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu) rs1431778557
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.881C>T (p.Ser294Phe) rs1557645723
NM_006516.4(SLC2A1):c.884C>A (p.Thr295Lys) rs80359823
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile) rs80359824
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe) rs794727870
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.941G>A (p.Gly314Asp) rs2124448295
NM_006516.4(SLC2A1):c.950A>C (p.Asn317Thr)
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
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.982G>T (p.Val328Leu) rs796053255
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063
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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