ClinVar Miner

Variants in gene SLC34A3 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
489 45 0 34 22 0 4 54

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 8 4 0 0
likely pathogenic 8 0 1 0 0
uncertain significance 4 1 0 20 6
likely benign 0 0 20 0 26
benign 0 0 6 26 0

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_001177316.2(SLC34A3):c.175+123C>T rs111532084 0.02353
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_001177316.2(SLC34A3):c.477C>T (p.Ile159=) rs116743582 0.00813
NM_001177316.2(SLC34A3):c.779G>A (p.Ser260Asn) rs142918575 0.00504
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=) rs34796681 0.00467
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=) rs113568956 0.00320
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_001177316.2(SLC34A3):c.679G>A (p.Ala227Thr) rs200814479 0.00246
NM_001177316.2(SLC34A3):c.1123G>A (p.Gly375Ser) rs201759654 0.00233
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001177316.2(SLC34A3):c.836C>T (p.Thr279Met) rs150570831 0.00202
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=) rs141775305 0.00161
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001177316.2(SLC34A3):c.493G>A (p.Val165Ile) rs146054276 0.00134
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490 0.00072
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114 0.00054
NM_001177316.2(SLC34A3):c.321C>T (p.Asp107=) rs114286327 0.00053
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=) rs142839759 0.00041
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567 0.00041
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023 0.00025
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=) rs148095831 0.00022
NM_001177316.2(SLC34A3):c.1304del (p.Ser435fs) rs771816857 0.00021
NM_001177316.2(SLC34A3):c.1093+8C>T rs201986644 0.00019
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=) rs369565150 0.00018
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001177316.2(SLC34A3):c.305-7G>A rs201109343 0.00014
NM_001177316.2(SLC34A3):c.232G>A (p.Gly78Arg) rs756241784 0.00011
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=) rs372523225 0.00005
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=) rs762986714 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=) rs370122685 0.00004
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala) rs139302994 0.00003
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633 0.00003
NM_001177316.2(SLC34A3):c.449-3C>T rs757092241 0.00002
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter) rs762610288 0.00001
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=) rs915920618 0.00001
NM_001177316.2(SLC34A3):c.1107G>A (p.Pro369=)
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del) rs532224704
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=) rs368153798
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001177316.2(SLC34A3):c.926-83G>A
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001177316.2(SLC34A3):c.944del (p.Gly315fs) rs1473689787

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