ClinVar Miner

Variants in gene DST 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
3384 299 0 24 26 0 3 49

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 3 1 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 1 2 0 25 1
likely benign 0 0 25 0 21
benign 0 0 1 21 0

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02534
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg) rs35497571 0.02037
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_001374736.1(DST):c.20997G>A (p.Leu6999=) rs187652380 0.00781
NM_001374736.1(DST):c.13820C>A (p.Pro4607His) rs138967674 0.00744
NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn) rs139350480 0.00572
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser) rs141573097 0.00280
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_001374736.1(DST):c.60C>G (p.Phe20Leu) rs150003298 0.00220
NM_001723.7(DST):c.4961C>T (p.Ala1654Val) rs150229184 0.00182
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val) rs201429821 0.00178
NM_001723.7(DST):c.4060C>A (p.Gln1354Lys) rs35599167 0.00167
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) rs200006386 0.00141
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr) rs140192373 0.00140
NM_001723.7(DST):c.4049C>T (p.Thr1350Met) rs45472691 0.00137
NM_001723.7(DST):c.6582A>C (p.Ala2194=) rs149007397 0.00115
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) rs193252082 0.00107
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) rs180765536 0.00102
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001374736.1(DST):c.5059-17C>G rs190803185 0.00089
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 0.00058
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe) rs201249286 0.00057
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly) rs369218541 0.00024
NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser) rs201758531 0.00014
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp) rs201419873 0.00012
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser) rs201138592 0.00009
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp) rs186788522 0.00006
NM_001374736.1(DST):c.2860-4G>C rs370134977 0.00005
NM_001374736.1(DST):c.3126G>A (p.Lys1042=) rs76795414 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00003
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala) rs753007435 0.00001
NM_001374736.1(DST):c.1872T>G (p.Ser624=) rs994026153 0.00001
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg) rs904996327 0.00001
NM_001374736.1(DST):c.14311-6T>G
NM_001374736.1(DST):c.14441-7_14441-6del rs773495985
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter) rs1562435373
NM_001374736.1(DST):c.20916C>T (p.Tyr6972=) rs763815018
NM_001374736.1(DST):c.23195-6C>T
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
NM_001374736.1(DST):c.608C>A (p.Ala203Glu) rs201871537
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185

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