ClinVar Miner

Variants with conflicting interpretations studied for Mucopolysaccharidosis type 7

Coded as:
Minimum review status of the submission for Mucopolysaccharidosis type 7: Collection method of the submission for Mucopolysaccharidosis type 7:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
523 27 0 13 11 1 9 32

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.

All conditions
Mucopolysaccharidosis type 7 pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 8 6 0 0 0
likely pathogenic 8 0 5 0 0 0
uncertain significance 6 5 0 10 1 1
likely benign 0 0 10 0 5 0
benign 0 0 1 5 0 0
other 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Mucopolysaccharidosis type 7 523 27 0 13 11 1 9 32

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00015
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00005
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=) rs546131174 0.00004
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00003
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00001
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg) rs757015172 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00001
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys) rs121918178
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404

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