ClinVar Miner

Variants with conflicting interpretations studied for Retinitis Pigmentosa, Dominant

Coded as:
Minimum review status of the submission for Retinitis Pigmentosa, Dominant: Y axis collection method of the submission for Retinitis Pigmentosa, Dominant:
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
432 304 3 50 15 0 6 67

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
Retinitis Pigmentosa, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 2 0 7 4
likely benign 2 1 4 3 50

Condition to condition summary #

Total conditions: 10
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 5 0 48 10 0 0 58
not provided 0 40 3 7 5 0 1 15
Leber congenital amaurosis 4 0 0 0 2 1 0 1 3
Retinitis pigmentosa 0 0 0 0 0 0 2 2
Usher syndrome, type 3A 0 0 0 1 0 0 1 2
Hypertriglyceridemia, susceptibility to 0 0 0 1 0 0 0 1
Leber congenital amaurosis 7; Cone-rod dystrophy 2 0 0 0 1 0 0 0 1
Retinal dystrophy 0 0 0 0 0 0 1 1
Retinitis pigmentosa 1 0 0 0 0 0 0 1 1
Retinitis pigmentosa 58 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP
NM_000322.4(PRPH2):c.*13C>T rs361524
NM_000322.4(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000322.4(PRPH2):c.318T>C (p.Val106=) rs7764439
NM_000322.4(PRPH2):c.801C>T (p.Val267=) rs189358082
NM_000322.4(PRPH2):c.910C>G (p.Gln304Glu) rs390659
NM_000322.4(PRPH2):c.929G>A (p.Arg310Lys) rs425876
NM_000322.5(PRPH2):c.-11A>C rs114062933
NM_000327.3(ROM1):c.686G>A (p.Arg229His) rs150168119
NM_000327.3(ROM1):c.812T>C (p.Met271Thr) rs137950927
NM_000327.3(ROM1):c.868delC (p.Gln290Lysfs) rs548233813
NM_000409.4(GUCA1A):c.567C>T (p.Asp189=) rs34925828
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.5(CRX):c.253-15G>A rs145805694
NM_000554.5(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000717.3(CA4):c.258C>T (p.Asn86=) rs185476073
NM_000717.4(CA4):c.700G>A (p.Val234Ile) rs117704637
NM_000883.3(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.3(IMPDH1):c.1405+9A>G rs11562030
NM_001031710.2(KLHL7):c.1440A>G (p.Lys480=) rs118185564
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_005802.4(TOPORS):c.1560A>G (p.Gln520=) rs61756347
NM_005802.4(TOPORS):c.2160C>T (p.Tyr720=) rs74328058
NM_005802.4(TOPORS):c.2245A>G (p.Asn749Asp) rs17857515
NM_005802.4(TOPORS):c.2314C>T (p.Leu772=) rs371017482
NM_005802.4(TOPORS):c.2319T>C (p.Ser773=) rs10971019
NM_005802.4(TOPORS):c.2643C>G (p.His881Gln) rs41302222
NM_005802.4(TOPORS):c.2991T>C (p.Asp997=) rs12348918
NM_005802.4(TOPORS):c.58C>T (p.Pro20Ser) rs112527210
NM_005802.4(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_006177.3(NRL):c.711C>G (p.Leu237=) rs8009051
NM_006269.1(RP1):c.1118C>T (p.Thr373Ile) rs77775126
NM_006269.1(RP1):c.2255C>T (p.Thr752Met) rs28399531
NM_006269.1(RP1):c.2615G>A (p.Arg872His) rs444772
NM_006269.1(RP1):c.2953A>T (p.Asn985Tyr) rs2293869
NM_006269.1(RP1):c.2991T>C (p.Asn997=) rs112667487
NM_006269.1(RP1):c.3699C>T (p.Ser1233=) rs114557304
NM_006269.1(RP1):c.5008G>A (p.Ala1670Thr) rs446227
NM_006269.1(RP1):c.5071T>C (p.Ser1691Pro) rs414352
NM_006269.1(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.1(RP1):c.5175A>G (p.Gln1725=) rs441800
NM_006269.1(RP1):c.5624G>C (p.Gly1875Ala) rs150728667
NM_006269.1(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006445.3(PRPF8):c.101-3C>T rs75670228
NM_006445.3(PRPF8):c.4467C>T (p.Leu1489=) rs113849788
NM_014014.4(SNRNP200):c.1159A>G (p.Met387Val) rs142729495
NM_014014.4(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320
NM_014014.4(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060
NM_014014.4(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031
NM_014014.4(SNRNP200):c.5933G>C (p.Gly1978Ala) rs75956769
NM_014014.4(SNRNP200):c.732C>T (p.Leu244=) rs199688602
NM_014336.4(AIPL1):c.-17C>A rs188246267
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.4(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.4(AIPL1):c.277-10A>C rs12453262
NM_014336.4(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.4(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.4(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.4(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_144631.5(ZNF513):c.1015T>C (p.Cys339Arg) rs267607182
NM_174878.2(CLRN1):c.57A>T (p.Ala19=) rs3796242
NM_174878.2(CLRN1):c.660C>T (p.Asp220=) rs148752352
NM_203288.1(RP9):c.34G>A (p.Ala12Thr) rs775870239
NM_203288.1(RP9):c.629A>G (p.Lys210Arg) rs150987618
NM_203288.1(RP9):c.664delT (p.Ter222Aspfs) rs553265417

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