ClinVar Miner

Variants in gene OCA2 with conflicting interpretations

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:

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
1222 145 0 98 27 2 53 141

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 affects
pathogenic 0 75 34 2 2 0
likely pathogenic 75 0 39 4 2 0
uncertain significance 34 39 0 24 7 0
likely benign 2 4 24 0 25 0
benign 2 2 7 25 0 2
affects 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 141
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_000275.3(OCA2):c.1952-16A>G rs113151152 0.01671
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415 0.01098
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_000275.3(OCA2):c.1842+17C>T rs147311864 0.00751
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00700
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00674
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.574-18C>T rs149992727 0.00518
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00489
NM_000275.3(OCA2):c.2500G>A (p.Val834Met) rs34704703 0.00441
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389 0.00395
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.126C>T (p.Ala42=) rs141135991 0.00327
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) rs34385677 0.00232
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00164
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00110
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00078
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00063
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00052
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) rs140566426 0.00042
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00040
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00035
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) rs201554429 0.00029
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923 0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) rs199752361 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00023
NM_000275.3(OCA2):c.647-3G>A rs572955525 0.00023
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) rs529219961 0.00022
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) rs148066812 0.00019
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00015
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00014
NM_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) rs200692258 0.00011
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.2432+11A>G rs145577954 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00007
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00005
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00005
NM_000275.3(OCA2):c.40G>A (p.Ala14Thr) rs368928996 0.00005
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.941T>G (p.Val314Gly) rs762262964 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys) rs374415755 0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs) rs746307353 0.00003
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys) rs141545475 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr) rs1026811783 0.00003
NM_000275.3(OCA2):c.65C>T (p.Thr22Met) rs779114740 0.00003
NM_000275.3(OCA2):c.1044+2T>C rs1368074390 0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) rs779086242 0.00002
NM_000275.3(OCA2):c.440dup (p.Ser148fs) rs1057518192 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000275.3(OCA2):c.1045-15T>G rs779461179 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.1134T>C (p.His378=) rs752317540 0.00001
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1364+5G>A rs751956177 0.00001
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) rs748692597 0.00001
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) rs2041233832 0.00001
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459 0.00001
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs) rs1297737900 0.00001
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg) rs751822606 0.00001
NM_000275.3(OCA2):c.2079+5G>T rs745930102 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.2135del (p.Ile712fs) rs775008954 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) rs763881975 0.00001
NM_000275.3(OCA2):c.286G>A (p.Glu96Lys) rs372184971 0.00001
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala) rs748287294 0.00001
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe) rs1158730024 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 0.00001
NM_000275.3(OCA2):c.761T>G (p.Leu254Arg) rs1258451850 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) rs2041525028
NM_000275.3(OCA2):c.1081C>G (p.Leu361Val)
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) rs752510351
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys) rs772019064
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val) rs748692597
NM_000275.3(OCA2):c.1456del (p.Asp486fs) rs2548339012
NM_000275.3(OCA2):c.1637-2A>G rs1595717218
NM_000275.3(OCA2):c.163dup (p.Ala55fs) rs1254334474
NM_000275.3(OCA2):c.1715G>C (p.Arg572Pro) rs754265614
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs) rs2548671260
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.2055dup (p.Ala686fs) rs772595552
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs) rs2036554820
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser) rs774822330
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2338+2T>G rs1064796956
NM_000275.3(OCA2):c.2383G>A (p.Gly795Arg)
NM_000275.3(OCA2):c.408_409del (p.Arg137fs) rs2548495570
NM_000275.3(OCA2):c.409_415del (p.Arg137fs) rs2548495539
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter) rs2548495233
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu) rs1277911369
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.646+1G>A rs1046172334
NM_000275.3(OCA2):c.74_78del (p.Pro25fs) rs747408689
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) rs759876062

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.