ClinVar Miner

Variants in gene SLC2A1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
889 208 0 70 50 1 25 129

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 30 13 1 1 1 1
likely pathogenic 29 0 14 1 0 0 0
uncertain significance 12 14 0 48 14 0 0
likely benign 0 1 48 0 40 0 0
benign 0 0 14 40 0 0 0

All variants with conflicting interpretations #

Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.507C>T (p.Leu169=) rs115541691 0.00102
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00086
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00063
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00054
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=) rs150384629 0.00047
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006516.4(SLC2A1):c.1216G>A (p.Val406Ile) rs148800393 0.00026
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=) rs144685583 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_006516.4(SLC2A1):c.18G>A (p.Lys6=) rs577329624 0.00012
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00012
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=) rs377674001 0.00007
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=) rs763664146 0.00006
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met) rs751573593 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr) rs199639208 0.00006
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00005
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=) rs372092107 0.00005
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00005
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00005
NM_006516.4(SLC2A1):c.276-8G>A rs373084446 0.00005
NM_006516.4(SLC2A1):c.114+18G>A rs745580526 0.00004
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met) rs142986731 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=) rs398124230 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006516.4(SLC2A1):c.758G>A (p.Arg253Gln) rs777498634 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys) rs147249343 0.00003
NM_006516.4(SLC2A1):c.1194T>C (p.Gly398=) rs761121578 0.00002
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) rs202060209 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_006516.4(SLC2A1):c.-2C>T rs587784388 0.00001
NM_006516.4(SLC2A1):c.1024G>A (p.Ala342Thr) rs763241827 0.00001
NM_006516.4(SLC2A1):c.1035G>A (p.Ala345=) rs748617912 0.00001
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=) rs769506294 0.00001
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile) rs200819771 0.00001
NM_006516.4(SLC2A1):c.1338C>T (p.Ile446=) rs2124445559 0.00001
NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys) rs756304012 0.00001
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) rs794726996 0.00001
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_006516.4(SLC2A1):c.19-4G>A rs398124229 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val) rs776583130 0.00001
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln) rs779073410 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.657C>T (p.Asn219=) rs534113895 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln) rs587784395 0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr) rs796053252 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.1023C>G (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp) rs2524984796
NM_006516.4(SLC2A1):c.1131CTT[1] (p.Phe379del) rs2524984781
NM_006516.4(SLC2A1):c.1171G>T (p.Val391Leu) rs764168088
NM_006516.4(SLC2A1):c.1196C>G (p.Pro399Arg) rs1643442142
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) rs1570590876
NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) rs398123069
NM_006516.4(SLC2A1):c.1259T>C (p.Met420Thr) rs2124446220
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile) rs2124446216
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1279-10T>C rs2124445720
NM_006516.4(SLC2A1):c.1279-11_1279-8del rs754641257
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.1330TTC[1] (p.Phe445del) rs2524982356
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.4(SLC2A1):c.1387A>T (p.Ile463Phe) rs2124445461
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=) rs1181822928
NM_006516.4(SLC2A1):c.203C>T (p.Ser68Leu) rs1570593865
NM_006516.4(SLC2A1):c.259G>A (p.Val87Ile) rs1643484242
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met) rs1570601100
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.276-2A>G rs2524998439
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr) rs1553157935
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.400G>A (p.Gly134Ser) rs1057518953
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
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>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.631C>T (p.Pro211Ser) rs796053247
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.679+4C>A rs139492241
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006516.4(SLC2A1):c.679+7G>A rs13306757
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) rs387907313
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=) rs1570592618
NM_006516.4(SLC2A1):c.731T>G (p.Met244Arg) rs1064795363
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His) rs2124448410
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro) rs886041633
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.972+25C>A rs187701356
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
Single allele

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