ClinVar Miner

Variants in gene SLC7A7 with conflicting interpretations

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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:
ClinVar version:

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
595 86 8 38 20 0 4 64

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
pathogenic 0 32 1 0 0
likely pathogenic 32 8 3 0 0
uncertain significance 1 3 0 19 2
likely benign 0 0 19 0 6
benign 0 0 2 6 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_003982.4(SLC7A7):c.500-20C>G rs375933584 0.00049
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_003982.4(SLC7A7):c.549A>C (p.Val183=) rs146945921 0.00011
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val) rs121908677 0.00010
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_003982.4(SLC7A7):c.1246-12C>T rs573454071 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=) rs765682604 0.00003
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs) rs386833809 0.00002
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=) rs777682875 0.00002
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro) rs386833814 0.00002
NM_003982.4(SLC7A7):c.545dup (p.Val183fs) rs386833818 0.00002
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter) rs773357652 0.00001
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=) rs371346432 0.00001
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798 0.00001
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs) rs752263234 0.00001
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs) rs1355745932 0.00001
NM_003982.4(SLC7A7):c.1387del (p.Val463fs) rs386833806 0.00001
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=) rs1566438384 0.00001
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=) rs768649205 0.00001
NM_003982.4(SLC7A7):c.998+9G>C rs1350841635 0.00001
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_003982.4(SLC7A7):c.1095+6T>C rs531862402
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_003982.4(SLC7A7):c.1245+10C>T rs531427504
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=) rs1043886041
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs) rs2139383552
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg) rs386833802
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs) rs1290445670
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs) rs386833812
NM_003982.4(SLC7A7):c.254_255del (p.Phe85fs) rs386833813
NM_003982.4(SLC7A7):c.499+1G>A rs386833817
NM_003982.4(SLC7A7):c.499+9G>C rs893853391
NM_003982.4(SLC7A7):c.516del (p.Asn173fs) rs2038690553
NM_003982.4(SLC7A7):c.539del (p.Gly180fs) rs1414333836
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=) rs750720946
NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter) rs386833821
NM_003982.4(SLC7A7):c.625+1G>C rs386833822
NM_003982.4(SLC7A7):c.625+1G>T rs386833822
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter) rs2038664064
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter) rs2139394686
NM_003982.4(SLC7A7):c.770+1del rs2139394672
NM_003982.4(SLC7A7):c.894+1G>T rs386833827
NM_003982.4(SLC7A7):c.895-2A>G rs146582474
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter) rs2038594225
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val) rs539843065
NM_003982.4(SLC7A7):c.998+1G>T rs386833828
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met) rs386833829

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