ClinVar Miner

Variants in gene RP1 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:
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
1156 68 0 28 8 1 6 37

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 protective other
pathogenic 0 17 2 2 2 1 1
likely pathogenic 16 0 2 0 1 0 0
uncertain significance 1 2 0 7 2 0 0
likely benign 1 0 7 0 11 0 0
benign 1 1 2 11 0 0 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_006269.2(RP1):c.4565G>A (p.Gly1522Asp) rs77860871 0.00580
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_006269.2(RP1):c.279G>T (p.Thr93=) rs144293929 0.00184
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_006269.2(RP1):c.3999C>T (p.Tyr1333=) rs146602041 0.00008
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile) rs762382791 0.00004
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.2025dup (p.Ser676fs) rs1365669334
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter) rs775731489
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter) rs1488237523
NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) rs939932729
NM_006269.2(RP1):c.458dup (p.Arg154fs) rs781249059
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
Single allele

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