ClinVar Miner

List of variants in gene SLC2A1 reported as pathogenic by Invitae

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Gene type:
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Total variants: 133
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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.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.457C>T (p.Arg153Cys) rs1643479461 0.00001
NC_000001.10:g.(?_43391628)_(43393369_?)del
NC_000001.10:g.(?_43392712)_(43396897_?)del
NC_000001.10:g.(?_43395244)_(43395726_?)del
NC_000001.10:g.(?_43424285)_(43424429_?)del
NC_000001.11:g.(?_42927021)_(42931226_?)del
NC_000001.11:g.(?_42928912)_(42943341_?)del
NC_000001.11:g.(?_42929853)_(42931226_?)del
NC_000001.11:g.(?_42958614)_(42958671_?)del
NM_006516.4(SLC2A1):c.1017dup (p.Gly340fs) rs2124447989
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1075G>T (p.Glu359Ter) rs1643443798
NM_006516.4(SLC2A1):c.1088G>A (p.Trp363Ter) rs1570591031
NM_006516.4(SLC2A1):c.1100_1101del (p.Leu367fs)
NM_006516.4(SLC2A1):c.115-1_115dup rs1557646893
NM_006516.4(SLC2A1):c.1164del (p.Trp388fs) rs2124446431
NM_006516.4(SLC2A1):c.1179del (p.Glu393fs) rs1553155887
NM_006516.4(SLC2A1):c.1185del (p.Phe395fs)
NM_006516.4(SLC2A1):c.1189C>T (p.Gln397Ter)
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu) rs776095655
NM_006516.4(SLC2A1):c.1208C>T (p.Ala403Val)
NM_006516.4(SLC2A1):c.1215dup (p.Val406fs) rs2124446296
NM_006516.4(SLC2A1):c.1224_1225del (p.Phe409fs) rs2124446266
NM_006516.4(SLC2A1):c.124G>T (p.Glu42Ter) rs2124450939
NM_006516.4(SLC2A1):c.1256G>A (p.Gly419Asp) rs139722450
NM_006516.4(SLC2A1):c.1257C>T (p.Gly419=) rs1557644989
NM_006516.4(SLC2A1):c.1266C>A (p.Phe422Leu) rs2124446209
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter) rs796053264
NM_006516.4(SLC2A1):c.1276G>T (p.Glu426Ter) rs1643440876
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) rs75485205
NM_006516.4(SLC2A1):c.1351A>T (p.Lys451Ter)
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter) rs754791604
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.1412del (p.Gly471fs) rs2124445408
NM_006516.4(SLC2A1):c.1412dup (p.Ala472fs) rs2124445408
NM_006516.4(SLC2A1):c.143G>A (p.Trp48Ter)
NM_006516.4(SLC2A1):c.163_164dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.18+1G>A rs80359841
NM_006516.4(SLC2A1):c.18+2T>G rs1643807832
NM_006516.4(SLC2A1):c.1A>C (p.Met1Leu)
NM_006516.4(SLC2A1):c.202dup (p.Ser68fs)
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu) rs1570593865
NM_006516.4(SLC2A1):c.216T>G (p.Phe72Leu)
NM_006516.4(SLC2A1):c.227dup (p.Met77fs) rs1553156199
NM_006516.4(SLC2A1):c.229_239del (p.Met77fs) rs1643484447
NM_006516.4(SLC2A1):c.248_249del (p.Val83fs)
NM_006516.4(SLC2A1):c.272_273insAAGG (p.Arg93fs)
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.275+1G>A rs2124450697
NM_006516.4(SLC2A1):c.276-1G>A rs1570593665
NM_006516.4(SLC2A1):c.276-2A>G
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.294_310del (p.Met98fs) rs2124450420
NM_006516.4(SLC2A1):c.294dup (p.Met99fs) rs2124450471
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
NM_006516.4(SLC2A1):c.305del (p.Leu102fs) rs1570593621
NM_006516.4(SLC2A1):c.311_314del (p.Phe104fs)
NM_006516.4(SLC2A1):c.374del (p.Gly125fs) rs1643480570
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.385dup (p.Ile129fs) rs2124450273
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.4(SLC2A1):c.388G>T (p.Gly130Cys) rs80359819
NM_006516.4(SLC2A1):c.392_460del (p.Val131_Arg153del) rs1570593449
NM_006516.4(SLC2A1):c.397T>C (p.Cys133Arg) rs1643480228
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) rs1057517822
NM_006516.4(SLC2A1):c.418G>C (p.Val140Leu) rs1057517822
NM_006516.4(SLC2A1):c.420del (p.Met142fs) rs1570593475
NM_006516.4(SLC2A1):c.431dup (p.Gly145_Glu146insTer) rs2124450179
NM_006516.4(SLC2A1):c.443C>T (p.Ser148Leu) rs1643479604
NM_006516.4(SLC2A1):c.451dup (p.Ala151fs) rs2124450132
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.469_475del (p.Gly157fs)
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.491TCG[2] (p.Val166del) rs2124450060
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.517-1G>A rs869312673
NM_006516.4(SLC2A1):c.517-2A>C
NM_006516.4(SLC2A1):c.539T>A (p.Met180Lys)
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) rs2124449417
NM_006516.4(SLC2A1):c.566del (p.Leu189fs)
NM_006516.4(SLC2A1):c.57del (p.Val20fs) rs1570601051
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter) rs1057521967
NM_006516.4(SLC2A1):c.620_621insT (p.Glu209fs) rs1643470035
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) rs2124449299
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.640dup (p.Leu214fs)
NM_006516.4(SLC2A1):c.656dup (p.Asn219fs) rs2124449259
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.680-2A>C
NM_006516.4(SLC2A1):c.680-2del rs2124449099
NM_006516.4(SLC2A1):c.683T>C (p.Leu228Pro)
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.725del (p.Gln242fs)
NM_006516.4(SLC2A1):c.727G>T (p.Glu243Ter)
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
NM_006516.4(SLC2A1):c.751_757dup (p.Arg253fs) rs2124448988
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) rs1553156053
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.833T>C (p.Leu278Pro) rs2124448851
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter) rs1553156051
NM_006516.4(SLC2A1):c.836dup (p.Leu280fs)
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter) rs1057521066
NM_006516.4(SLC2A1):c.844del (p.Gln282fs) rs2124448836
NM_006516.4(SLC2A1):c.876T>G (p.Tyr292Ter)
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His) rs2124448410
NM_006516.4(SLC2A1):c.880T>C (p.Ser294Pro)
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.898A>T (p.Lys300Ter) rs2124448369
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs) rs886041590
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.970_972+3del rs1643459989
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu) rs796053253
NM_006516.4(SLC2A1):c.972+1G>C rs80359843
NM_006516.4(SLC2A1):c.985G>C (p.Glu329Gln)
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.997_1000del (p.Arg333fs)
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986

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