ClinVar Miner

Variants in gene DCHS1 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
1495 166 0 49 44 0 1 90

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 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 40 7
likely benign 0 0 40 0 48
benign 0 0 7 48 0

All variants with conflicting interpretations #

Total variants: 90
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.6272G>C (p.Arg2091Thr) rs2659874 0.01569
NM_003737.4(DCHS1):c.1398C>T (p.Asn466=) rs117002568 0.01510
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.4470G>C (p.Ala1490=) rs548880262 0.00588
NM_003737.4(DCHS1):c.596C>G (p.Pro199Arg) rs114142691 0.00579
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr) rs146233988 0.00526
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 0.00333
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 0.00269
NM_003737.4(DCHS1):c.1545C>T (p.Gly515=) rs147784593 0.00267
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.543G>A (p.Ala181=) rs148357575 0.00195
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.5856T>C (p.Asp1952=) rs185526593 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.1493G>A (p.Arg498Gln) rs150834672 0.00142
NM_003737.4(DCHS1):c.1058G>A (p.Arg353Gln) rs139223913 0.00138
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=) rs372790303 0.00137
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe) rs148791938 0.00109
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile) rs146434035 0.00089
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252 0.00083
NM_003737.4(DCHS1):c.2548C>T (p.Arg850Cys) rs79559386 0.00078
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 0.00063
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe) rs145939548 0.00060
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met) rs147152025 0.00044
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly) rs145373149 0.00038
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys) rs147594191 0.00036
NM_003737.4(DCHS1):c.1524C>T (p.Val508=) rs140183045 0.00031
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe) rs201094018 0.00031
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His) rs139849372 0.00030
NM_003737.4(DCHS1):c.6862+3G>A rs372790879 0.00030
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.4553G>A (p.Arg1518Gln) rs753287108 0.00019
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.5036-5C>G rs369059057 0.00016
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) rs140867718 0.00016
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.2382G>C (p.Gln794His) rs369091875 0.00008
NM_003737.4(DCHS1):c.8637C>T (p.Ser2879=) rs761026707 0.00007
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His) rs753184200 0.00006
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 0.00005
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=) rs370161556 0.00005
NM_003737.4(DCHS1):c.8624G>A (p.Arg2875Gln) rs772552501 0.00005
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.1798-10C>T rs577182515 0.00001
NM_003737.4(DCHS1):c.8172C>T (p.Leu2724=) rs575189604 0.00001
NM_003737.4(DCHS1):c.8269G>A (p.Ala2757Thr) rs373478460 0.00001
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp) rs758453554 0.00001
NM_003737.4(DCHS1):c.1467C>A (p.Gly489=)
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly) rs199875933
NM_003737.4(DCHS1):c.2595G>A (p.Val865=) rs541336434
NM_003737.4(DCHS1):c.5035+10dup rs554638348
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
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.7428C>T (p.Asn2476=)
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.8043C>T (p.Asp2681=)
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu) rs148148252
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln) rs200152314

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