ClinVar Miner

Variants in gene SLC17A5 with conflicting interpretations

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
176 16 4 20 8 0 2 27

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 14 0 0 0
likely pathogenic 14 4 2 0 0
uncertain significance 0 2 0 6 3
likely benign 0 0 6 0 6
benign 0 0 3 6 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs) rs386833987
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=) rs149017456
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs) rs1057517119
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) rs374241516
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=) rs192599733
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) rs34348416
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=) rs374582872
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875

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