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:
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
1090 88 0 74 25 2 42 112

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 54 28 2 2 0
likely pathogenic 54 0 31 1 1 0
uncertain significance 28 31 0 21 7 0
likely benign 2 1 21 0 22 0
benign 2 1 7 22 0 2
affects 0 0 0 0 2 0

All variants with conflicting interpretations #

Total variants: 112
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.1887G>T (p.Val629=) rs1800415 0.01098
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00755
NM_000275.3(OCA2):c.1842+17C>T rs147311864 0.00751
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.574-18C>T rs149992727 0.00559
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
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.126C>T (p.Ala42=) rs141135991 0.00362
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) rs34385677 0.00249
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
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.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) rs529219961 0.00048
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) rs140566426 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
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.1320G>C (p.Leu440Phe) rs1800408 0.00024
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.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000275.3(OCA2):c.647-3G>A rs572955525 0.00023
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.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1785-7C>G rs375281082 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.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 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.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000275.3(OCA2):c.941T>G (p.Val314Gly) rs762262964 0.00004
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.2086_2095del (p.Ala696fs) rs746307353 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
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.565_566del (p.Leu189fs) rs1312967591 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 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.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) rs748692597 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.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.535A>G (p.Lys179Glu) rs1277911369 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 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.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) rs2041525028
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)
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
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.2158C>T (p.Arg720Cys)
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)
NM_000275.3(OCA2):c.2338+2T>G rs1064796956
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.646+1G>A
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

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