ClinVar Miner

Variants in gene combination COL18A1, SLC19A1 with conflicting interpretations

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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
875 55 0 29 12 0 4 42

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 0 1 1
likely pathogenic 2 0 3 0 0
uncertain significance 0 3 0 11 3
likely benign 1 0 11 0 27
benign 1 0 3 27 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3694-33A>C rs56335679 0.47305
NM_001379500.1(COL18A1):c.3694-32C>A rs55690336 0.45427
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) rs11544971 0.01462
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) rs61736805 0.01313
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) rs113268527 0.00717
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_001379500.1(COL18A1):c.2979A>C (p.Pro993=) rs575364982 0.00407
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg) rs199836125 0.00323
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001379500.1(COL18A1):c.3314G>A (p.Arg1105Gln) rs374207420 0.00219
NM_001379500.1(COL18A1):c.3250-15G>A rs377715562 0.00215
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu) rs61735035 0.00133
NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=) rs113315760 0.00106
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) rs371106773 0.00071
NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) rs202049650 0.00061
NM_001379500.1(COL18A1):c.3735C>T (p.Gly1245=) rs368913533 0.00040
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001379500.1(COL18A1):c.2684-9C>T rs1002126692 0.00003
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) rs1057518766 0.00002
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His) rs370102608 0.00001
NM_001379500.1(COL18A1):c.2684-14TC[2] rs148455528
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del) rs371849586
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.2869-8G>T rs770714794
NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) rs759403198
NM_001379500.1(COL18A1):c.2982G>C (p.Gly994=) rs367651350
NM_001379500.1(COL18A1):c.3087+9_3087+10del rs373823632
NM_001379500.1(COL18A1):c.3417C>T (p.His1139=)
NM_001379500.1(COL18A1):c.3495+14C>G rs191291169
NM_001379500.1(COL18A1):c.3531C>T (p.Gly1177=) rs376208451
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe) rs1085307837
NM_001379500.1(COL18A1):c.3847G>T (p.Gly1283Trp) rs1085307935

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