ClinVar Miner

Variants in gene COL6A1 with conflicting interpretations

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 Variants with at least 2 submissions 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 kind of conflict
425 120 0 62 63 0 8 126

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 7 3 0 0
likely pathogenic 7 0 7 0 0
uncertain significance 3 7 0 63 5
likely benign 0 0 63 0 55
benign 0 0 5 55 0

All variants with conflicting interpretations #

Total variants: 126
Download table as spreadsheet
HGVS dbSNP
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) rs116343553
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1119+39C>T rs74982956
NM_001848.2(COL6A1):c.1120-12G>A rs115107397
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=) rs148630223
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000
NM_001848.2(COL6A1):c.1335+20G>C rs9306146
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu) rs759834554
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1399-3C>T rs200095847
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs) rs878854398
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val) rs117340427
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) rs35134265
NM_001848.2(COL6A1):c.1524+15G>A rs116000285
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) rs143755280
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.1612-10G>A rs141892165
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.1644C>T (p.Asp548=) rs182425338
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) rs369802454
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) rs770099663
NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1740+50C>T rs148205490
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
NM_001848.2(COL6A1):c.1782C>T (p.Cys594=) rs745847824
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) rs142554239
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2049C>T (p.Asn683=) rs143695871
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2067-10T>C rs200727020
NM_001848.2(COL6A1):c.2109G>A (p.Thr703=) rs760649238
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2148G>A (p.Pro716=) rs780032842
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=) rs369502543
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2250+6G>C rs202212586
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) rs149910296
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2434+15_2434+54del40 rs1064795349
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2464+9C>T rs368651226
NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=) rs200124802
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=) rs371763977
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) rs540554122
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2670G>A (p.Ser890=) rs527265374
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=) rs372931456
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2758C>T (p.Leu920=) rs141620374
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.2(COL6A1):c.2793G>A (p.Ser931=) rs148561616
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2820G>A (p.Leu940=) rs111451684
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=) rs140427635
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met) rs200959957
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) rs141237809
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) rs138646508
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.2(COL6A1):c.348C>T (p.Ser116=) rs189444981
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.381C>T (p.Thr127=) rs75180385
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val) rs139648899
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.424G>C (p.Val142Leu) rs144282452
NM_001848.2(COL6A1):c.428+39C>G rs148766287
NM_001848.2(COL6A1):c.531C>T (p.Asn177=) rs767176038
NM_001848.2(COL6A1):c.579C>T (p.Pro193=) rs61751027
NM_001848.2(COL6A1):c.588+37A>G rs117470181
NM_001848.2(COL6A1):c.588+8C>G rs398123638
NM_001848.2(COL6A1):c.609C>T (p.Ile203=) rs369590506
NM_001848.2(COL6A1):c.624G>A (p.Thr208=) rs573282005
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.739-18C>T rs144843800
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys) rs145849970
NM_001848.2(COL6A1):c.777G>A (p.Pro259=) rs61735854
NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu) rs757230924
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001848.2(COL6A1):c.846_854delAGCCGGAGA (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.2(COL6A1):c.859-18T>A rs398123641
NM_001848.2(COL6A1):c.859-20C>T rs78884675
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-10C>T rs200508160
NM_001848.2(COL6A1):c.958-17G>A rs79364611
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031
NM_001848.2(COL6A1):c.996C>T (p.Gly332=) rs11702055

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