ClinVar Miner

Variants in gene DCHS1 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
2234 282 0 56 53 0 2 106

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 2 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 49 8
likely benign 0 0 49 0 54
benign 0 0 8 54 0

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 0.03864
NM_003737.4(DCHS1):c.1398C>T (p.Asn466=) rs117002568 0.01510
NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr) rs2659874 0.01470
NM_003737.4(DCHS1):c.3546G>A (p.Gln1182=) rs138559226 0.01370
NM_003737.4(DCHS1):c.5697A>G (p.Ala1899=) rs11040936 0.00900
NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile) rs113091644 0.00689
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_003737.4(DCHS1):c.6792G>A (p.Thr2264=) rs116909245 0.00630
NM_003737.4(DCHS1):c.596C>G (p.Pro199Arg) rs114142691 0.00579
NM_003737.4(DCHS1):c.4470G>C (p.Ala1490=) rs548880262 0.00562
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr) rs146233988 0.00528
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) rs112402535 0.00518
NM_003737.4(DCHS1):c.4685C>T (p.Pro1562Leu) rs114894677 0.00496
NM_003737.4(DCHS1):c.4479G>A (p.Gly1493=) rs112937871 0.00476
NM_003737.4(DCHS1):c.3711G>A (p.Thr1237=) rs112445976 0.00451
NM_003737.4(DCHS1):c.8758G>A (p.Val2920Met) rs115534913 0.00374
NM_003737.4(DCHS1):c.8404C>T (p.Leu2802=) rs138806709 0.00352
NM_003737.4(DCHS1):c.952C>T (p.Arg318Trp) rs111476304 0.00312
NM_003737.4(DCHS1):c.3263C>T (p.Thr1088Ile) rs150912028 0.00305
NM_003737.4(DCHS1):c.2996G>A (p.Arg999Gln) rs111781030 0.00281
NM_003737.4(DCHS1):c.8502C>T (p.His2834=) rs150994160 0.00272
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) rs184586428 0.00259
NM_003737.4(DCHS1):c.1545C>T (p.Gly515=) rs147784593 0.00255
NM_003737.4(DCHS1):c.6863-19C>A rs146143895 0.00249
NM_003737.4(DCHS1):c.5604G>A (p.Val1868=) rs147841363 0.00222
NM_003737.4(DCHS1):c.4938G>T (p.Ala1646=) rs77585323 0.00197
NM_003737.4(DCHS1):c.5856T>C (p.Asp1952=) rs185526593 0.00194
NM_003737.4(DCHS1):c.543G>A (p.Ala181=) rs148357575 0.00190
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) rs111515657 0.00182
NM_003737.4(DCHS1):c.2700G>A (p.Thr900=) rs141520138 0.00172
NM_003737.4(DCHS1):c.1794G>T (p.Leu598=) rs111908402 0.00165
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_003737.4(DCHS1):c.1058G>A (p.Arg353Gln) rs139223913 0.00138
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00132
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=) rs372790303 0.00131
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe) rs148791938 0.00104
NM_003737.4(DCHS1):c.7371C>T (p.His2457=) rs149485410 0.00100
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_003737.4(DCHS1):c.2548C>T (p.Arg850Cys) rs79559386 0.00095
NM_003737.4(DCHS1):c.5035+10G>A rs149968543 0.00095
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252 0.00083
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) rs143767864 0.00077
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu) rs145099391 0.00076
NM_003737.4(DCHS1):c.9243C>T (p.Cys3081=) rs147679452 0.00062
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe) rs145939548 0.00060
NM_003737.4(DCHS1):c.1420C>T (p.Arg474Cys) rs117390152 0.00056
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp) rs143017017 0.00056
NM_003737.4(DCHS1):c.8897G>A (p.Arg2966His) rs201519860 0.00048
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His) rs145725245 0.00047
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met) rs147152025 0.00044
NM_003737.4(DCHS1):c.1504C>G (p.Gln502Glu) rs142632567 0.00038
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe) rs201094018 0.00038
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) rs147594191 0.00037
NM_003737.4(DCHS1):c.1524C>T (p.Val508=) rs140183045 0.00036
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly) rs145373149 0.00036
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His) rs139849372 0.00030
NM_003737.4(DCHS1):c.6863-20A>G rs186044615 0.00029
NM_003737.4(DCHS1):c.6862+3G>A rs372790879 0.00027
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu) rs61735331 0.00024
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) rs143753116 0.00020
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln) rs753287108 0.00018
NM_003737.4(DCHS1):c.5036-5C>G rs369059057 0.00016
NM_003737.4(DCHS1):c.6467T>A (p.Val2156Glu) rs148323523 0.00016
NM_003737.4(DCHS1):c.7311A>G (p.Thr2437=) rs374435895 0.00016
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) rs140867718 0.00016
NM_003737.4(DCHS1):c.9295C>T (p.Leu3099=) rs546047071 0.00015
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn) rs373185353 0.00014
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln) rs141488333 0.00014
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His) rs145132459 0.00013
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=) rs145160213 0.00011
NM_003737.4(DCHS1):c.3176C>A (p.Ala1059Glu) rs556982880 0.00010
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met) rs150889229 0.00009
NM_003737.4(DCHS1):c.8043C>T (p.Asp2681=) rs549044948 0.00009
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_003737.4(DCHS1):c.8637C>T (p.Ser2879=) rs761026707 0.00007
NM_003737.4(DCHS1):c.2062C>T (p.Arg688Trp) rs563576751 0.00006
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His) rs753184200 0.00006
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=) rs370161556 0.00006
NM_003737.4(DCHS1):c.1467C>A (p.Gly489=) rs139297616 0.00005
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 0.00005
NM_003737.4(DCHS1):c.8624G>A (p.Arg2875Gln) rs772552501 0.00005
NM_003737.4(DCHS1):c.2595G>A (p.Val865=) rs541336434 0.00004
NM_003737.4(DCHS1):c.1492C>T (p.Arg498Trp) rs200084780 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_003737.4(DCHS1):c.8292A>G (p.Thr2764=) rs763012228 0.00003
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp) rs758453554 0.00003
NM_003737.4(DCHS1):c.2597G>A (p.Arg866Gln) rs572331982 0.00002
NM_003737.4(DCHS1):c.5313G>A (p.Met1771Ile) rs765375271 0.00002
NM_003737.4(DCHS1):c.8172C>T (p.Leu2724=) rs575189604 0.00002
NM_003737.4(DCHS1):c.1798-10C>T rs577182515 0.00001
NM_003737.4(DCHS1):c.7428C>T (p.Asn2476=) rs569335271 0.00001
NM_003737.4(DCHS1):c.8269G>A (p.Ala2757Thr) rs373478460 0.00001
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly) rs199875933
NM_003737.4(DCHS1):c.2995C>T (p.Arg999Ter) rs1564865337
NM_003737.4(DCHS1):c.3773-10C>G
NM_003737.4(DCHS1):c.3930+20C>T rs770156398
NM_003737.4(DCHS1):c.5035+10dup rs554638348
NM_003737.4(DCHS1):c.6421C>T (p.Arg2141Ter)
NM_003737.4(DCHS1):c.701C>G (p.Pro234Arg) rs149022037
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp) rs141901540
NM_003737.4(DCHS1):c.76CTG[7] (p.Leu33del) rs72555381
NM_003737.4(DCHS1):c.76CTG[9] (p.Leu33dup) rs72555381
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu) rs148148252
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) rs200152314

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.