ClinVar Miner

Variants with conflicting interpretations studied for Cone-Rod Dystrophy, Recessive

Coded as:
Minimum review status of the submission for Cone-Rod Dystrophy, Recessive: Y axis collection method of the submission for Cone-Rod Dystrophy, Recessive:
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 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
131 192 4 50 37 3 16 87

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
Cone-Rod Dystrophy, Recessive pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
uncertain significance 1 5 0 17 8 0 0
likely benign 7 8 14 4 49 2 1
benign 0 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 18
Download table as spreadsheet
Condition 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
not specified 0 25 0 47 16 0 0 62
not provided 0 49 4 8 10 0 3 24
Stargardt disease 1 0 2 0 0 4 1 11 16
ABCA4-Related Disorders 0 2 0 0 1 0 2 3
Cone-rod dystrophy 13; Leber congenital amaurosis 6 0 0 0 1 2 0 0 3
Cone-rod dystrophy 15 0 2 0 0 3 0 0 3
Cone/cone-rod dystrophy 0 0 0 0 0 0 2 2
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
Stargardt Disease, Recessive 0 100 0 0 0 0 2 2
Cone dystrophy 4 0 0 0 0 1 0 0 1
Cone-rod dystrophy 13 0 0 0 0 0 0 1 1
Cone-rod dystrophy 16 0 0 0 0 1 0 0 1
Cone-rod dystrophy 3 0 0 0 0 0 0 1 1
Cone-rod dystrophy 9 0 0 0 0 1 0 0 1
Macular degeneration 0 101 0 0 1 0 0 1
Macular dystrophy 0 1 0 0 0 0 1 1
Retinal dystrophy 0 0 0 0 0 0 1 1
Retinitis pigmentosa 35 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 87
Download table as spreadsheet
HGVS dbSNP
NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_003816.2(ADAM9):c.78C>A (p.Val26=) rs148707472
NM_003816.2(ADAM9):c.914+8T>A rs377447230
NM_006204.3(PDE6C):c.1104A>G (p.Glu368=) rs145836229
NM_006204.3(PDE6C):c.1270-9C>T rs11187564
NM_006204.3(PDE6C):c.1380C>G (p.Thr460=) rs3737228
NM_006204.3(PDE6C):c.1936-9A>G rs182445749
NM_006204.3(PDE6C):c.203C>T (p.Thr68Ile) rs62642544
NM_006204.3(PDE6C):c.2503G>A (p.Gly835Arg) rs142876079
NM_006204.3(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_006204.3(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006204.3(PDE6C):c.282C>T (p.Asp94=) rs12781149
NM_020366.3(RPGRIP1):c.*10T>C rs80191010
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
NM_020366.3(RPGRIP1):c.2215+7G>A rs7157052
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904
NM_020366.3(RPGRIP1):c.3340-15C>T rs28664100
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) rs17792599
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_022367.3(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022367.3(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022367.3(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282
NM_022367.3(SEMA4A):c.84G>A (p.Thr28=) rs149711133
NM_033100.3(CDHR1):c.-1C>T rs114273269
NM_033100.3(CDHR1):c.1071C>T (p.Ser357=) rs146588811
NM_033100.3(CDHR1):c.1461G>A (p.Gly487=) rs141787212
NM_033100.3(CDHR1):c.1515C>T (p.Gly505=) rs116594644
NM_033100.3(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961
NM_033100.3(CDHR1):c.240C>T (p.Val80=) rs11593005
NM_033100.3(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033
NM_033100.3(CDHR1):c.297+6G>A rs79239487
NM_033100.3(CDHR1):c.486G>C (p.Arg162Ser) rs74145715
NM_033100.3(CDHR1):c.526-7C>G rs190906755
NM_033100.3(CDHR1):c.728C>T (p.Ala243Val) rs7086200
NM_033100.3(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033100.3(CDHR1):c.863-9C>T rs4933977
NM_177965.3(C8orf37):c.528A>G (p.Thr176=) rs143748636

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