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: 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 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
25 34 4 52 48 3 7 92

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 established risk allele risk factor
uncertain significance 4 4 0 26 9 0 0
likely benign 1 0 18 4 51 1 2
benign 0 0 0 1 0 0 0

Condition to condition summary #

Total conditions: 7
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
not provided 0 23 4 52 40 0 7 91
not specified 0 17 0 32 2 0 0 34
ABCA4-Related Disorders 0 72 0 5 12 0 0 17
ABCA4-related condition 0 2 0 2 4 1 0 7
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
CDHR1-related condition 0 0 0 0 1 0 0 1
Macular dystrophy, retinal, 5 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08466
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_033100.4(CDHR1):c.297+6G>A rs79239487 0.00787
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.*136G>A rs55665437 0.00448
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437 0.00425
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_000350.3(ABCA4):c.-92C>T rs200102393 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234 0.00121
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000350.3(ABCA4):c.*299G>C rs538804441 0.00048
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242 0.00007
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 0.00006
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_000350.3(ABCA4):c.1356+14dup rs886046567
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1]) rs62642572
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900

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