ClinVar Miner

Variants in gene DST 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
3564 380 0 50 45 0 5 96

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 4 1 0 0
likely pathogenic 4 0 4 0 0
uncertain significance 1 4 0 45 3
likely benign 0 0 45 0 46
benign 0 0 3 46 0

All variants with conflicting interpretations #

Total variants: 96
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001723.7(DST):c.4980A>C (p.Val1660=) rs2230863 0.03282
NM_001723.7(DST):c.5055T>C (p.Asn1685=) rs2230864 0.03211
NM_001374736.1(DST):c.23058G>A (p.Val7686=) rs144012429 0.02565
NM_001374736.1(DST):c.14441-7del rs201921834 0.02559
NM_001374736.1(DST):c.4452T>C (p.Asn1484=) rs112640831 0.02508
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02502
NM_001374736.1(DST):c.4590T>G (p.Asn1530Lys) rs35014998 0.02397
NM_001723.7(DST):c.3346C>T (p.His1116Tyr) rs6909714 0.02098
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.21675+7G>A rs34892827 0.01510
NM_001374736.1(DST):c.13598T>C (p.Val4533Ala) rs9464393 0.01441
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01105
NM_001374736.1(DST):c.4845G>A (p.Arg1615=) rs41271870 0.01076
NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg) rs143438011 0.00955
NM_001374736.1(DST):c.4200A>G (p.Lys1400=) rs35715547 0.00872
NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu) rs62619760 0.00847
NM_001374736.1(DST):c.22305T>C (p.Asp7435=) rs114094997 0.00790
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.19648A>G (p.Thr6550Ala) rs147983675 0.00671
NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser) rs75105686 0.00642
NM_001374736.1(DST):c.2491-6C>T rs143259402 0.00635
NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn) rs139350480 0.00532
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_001374736.1(DST):c.12839A>G (p.Lys4280Arg) rs186813964 0.00287
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser) rs141573097 0.00280
NM_001723.7(DST):c.4400G>A (p.Arg1467His) rs147704763 0.00272
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.25C>T (p.Arg9Cys) rs75671065 0.00216
NM_001723.7(DST):c.4961C>T (p.Ala1654Val) rs150229184 0.00182
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val) rs201429821 0.00170
NM_001723.7(DST):c.4060C>A (p.Gln1354Lys) rs35599167 0.00156
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001374736.1(DST):c.2705C>G (p.Ser902Cys) rs138553142 0.00138
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr) rs140192373 0.00138
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) rs200006386 0.00131
NM_001723.7(DST):c.4049C>T (p.Thr1350Met) rs45472691 0.00130
NM_001374736.1(DST):c.742A>G (p.Ile248Val) rs112635185 0.00121
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.15309T>A (p.Phe5103Leu) rs191081991 0.00086
NM_001374736.1(DST):c.20153G>A (p.Arg6718His) rs79728438 0.00083
NM_001374736.1(DST):c.5059-17C>G rs190803185 0.00083
NM_001723.7(DST):c.5519G>A (p.Arg1840His) rs35341433 0.00070
NM_001723.7(DST):c.3436A>G (p.Met1146Val) rs148413592 0.00066
NM_001374736.1(DST):c.2504G>A (p.Arg835His) rs41267671 0.00064
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 0.00058
NM_001723.7(DST):c.6868A>G (p.Arg2290Gly) rs112473525 0.00047
NM_001723.7(DST):c.4772A>C (p.Gln1591Pro) rs138185589 0.00044
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001374736.1(DST):c.12680G>A (p.Arg4227His) rs201346012 0.00035
NM_001374736.1(DST):c.13273A>G (p.Ile4425Val) rs182262649 0.00033
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile) rs369194519 0.00029
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn) rs374575683 0.00023
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly) rs369218541 0.00021
NM_001374736.1(DST):c.11941A>C (p.Lys3981Gln) rs149342331 0.00020
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.150A>G (p.Lys50=) rs375301517 0.00011
NM_001374736.1(DST):c.14311-6T>G rs375787839 0.00009
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys) rs373258036 0.00009
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser) rs201138592 0.00009
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr) rs777558951 0.00009
NM_001374736.1(DST):c.12238A>G (p.Ile4080Val) rs200855949 0.00007
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp) rs186788522 0.00007
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser) rs780386919 0.00005
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_001723.7(DST):c.3886A>G (p.Lys1296Glu) rs771246306 0.00004
NM_001374736.1(DST):c.23195-6C>T rs559604901 0.00003
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter) rs779271284 0.00003
NM_001374736.1(DST):c.11679T>C (p.Tyr3893=) rs375258425 0.00002
NM_001374736.1(DST):c.16323T>C (p.Asn5441=) rs369835193 0.00002
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00002
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg) rs904996327 0.00002
NM_001723.7(DST):c.4534C>T (p.Arg1512Ter) rs761229102 0.00002
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.20916C>T (p.Tyr6972=) rs763815018 0.00001
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.21403-23TG[19] rs144810945
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile) rs760700573
NM_001374736.1(DST):c.2965-6T>C rs2098828864
NM_001374736.1(DST):c.3986G>A (p.Arg1329Gln) rs763518239
NM_001374736.1(DST):c.608C>A (p.Ala203Glu) rs201871537
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001723.7(DST):c.7887_7891delinsGTA (p.Lys2630fs) rs1554497505

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