ClinVar Miner

List of variants in gene OCA2 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
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.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 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.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
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.2338+1G>T rs770635415 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.2378G>A (p.Cys793Tyr) rs1026811783 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.1044+2T>C rs1368074390 0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) rs779086242 0.00002
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839 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.1044+1G>T rs185504549 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.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171 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.1555del (p.Val519fs) rs765235945 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 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.2225dup (p.Phe744fs) rs2036555943 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 0.00001
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly) rs767092342 0.00001
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala) rs777893926 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
GRCh37/hg19 15q13.1(chr15:28118372-28304810)x1
GRCh37/hg19 15q13.1(chr15:28171273-28171400)x1
NC_000015.10:g.27955214_27955217del rs2140668412
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NC_000015.9:g.(?_28090085)_(28096641_?)del
NC_000015.9:g.(?_28171253)_(28171420_?)del
NC_000015.9:g.(?_28171253)_(28171420_?)dup
NC_000015.9:g.(?_28171253)_(28231809_?)del
NC_000015.9:g.(?_28171253)_(28235813_?)del
NC_000015.9:g.(?_28171253)_(28277329_?)del
NC_000015.9:g.(?_28171253)_(28277329_?)dup
NC_000015.9:g.(?_28200284)_(28200381_?)del
NC_000015.9:g.(?_28211816)_(28211988_?)del
NC_000015.9:g.(?_28211816)_(28235813_?)del
NC_000015.9:g.(?_28211816)_(28277329_?)del
NC_000015.9:g.(?_28228471)_(28228649_?)del
NC_000015.9:g.(?_28231713)_(28235813_?)del
NC_000015.9:g.(?_28234727)_(28234832_?)del
NC_000015.9:g.(?_28235702)_(28277329_?)del
NC_000015.9:g.(?_28263523)_(28263723_?)del
NC_000015.9:g.(?_28269971)_(28270068_?)del
NM_000275.2(OCA2):c.646+1823_807+678delinsAAA rs1555375711
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1045-1G>T
NM_000275.3(OCA2):c.1045-2A>G
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) rs2041525028
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) rs200398581
NM_000275.3(OCA2):c.1079C>T (p.Ser360Phe)
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
NM_000275.3(OCA2):c.1091del (p.Leu364fs)
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs) rs1595774445
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1228_1231del (p.Cys410fs)
NM_000275.3(OCA2):c.122del (p.Gly41fs) rs1407174563
NM_000275.3(OCA2):c.1240-1G>T
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
NM_000275.3(OCA2):c.1262_1271del (p.Arg421fs)
NM_000275.3(OCA2):c.1268G>A (p.Trp423Ter)
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) rs752510351
NM_000275.3(OCA2):c.1307del (p.Leu436fs)
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1346dup (p.Thr450fs) rs2140978976
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
NM_000275.3(OCA2):c.1365-1G>A rs2140965742
NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro)
NM_000275.3(OCA2):c.1395_1399del (p.Arg465fs)
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
NM_000275.3(OCA2):c.1501_1502insGC (p.Met501fs)
NM_000275.3(OCA2):c.1503+1G>A
NM_000275.3(OCA2):c.1504-2A>G rs752460023
NM_000275.3(OCA2):c.1529del (p.Ala510fs)
NM_000275.3(OCA2):c.1538dup (p.Ile514fs)
NM_000275.3(OCA2):c.1611T>G (p.Tyr537Ter) rs2140824287
NM_000275.3(OCA2):c.1615_1621dup (p.Pro541fs)
NM_000275.3(OCA2):c.163del (p.Ala55fs) rs1254334474
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.168del (p.Gln58fs)
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1773_1774insT (p.Thr592fs)
NM_000275.3(OCA2):c.1784+1G>A
NM_000275.3(OCA2):c.1808del (p.Asn603fs) rs1476192724
NM_000275.3(OCA2):c.1808dup (p.Asn603fs)
NM_000275.3(OCA2):c.1811G>A (p.Trp604Ter)
NM_000275.3(OCA2):c.1828G>T (p.Glu610Ter)
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
NM_000275.3(OCA2):c.1834C>T (p.Gln612Ter)
NM_000275.3(OCA2):c.1841del (p.Lys614fs)
NM_000275.3(OCA2):c.1841dup (p.His615fs)
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.1843-1G>T rs2040042896
NM_000275.3(OCA2):c.1865T>C (p.Leu622Pro)
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1935dup (p.Ile646fs)
NM_000275.3(OCA2):c.1951+1215G>T
NM_000275.3(OCA2):c.1951+1G>A
NM_000275.3(OCA2):c.1951+1G>C rs752727398
NM_000275.3(OCA2):c.1951+2T>A
NM_000275.3(OCA2):c.1951+2T>C
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.1978del (p.Trp660fs)
NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter) rs1429912526
NM_000275.3(OCA2):c.1980G>A (p.Trp660Ter)
NM_000275.3(OCA2):c.199del (p.Glu67fs)
NM_000275.3(OCA2):c.2011_2015del (p.Glu671fs)
NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs)
NM_000275.3(OCA2):c.2049_2050insC (p.Phe684fs)
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2055dup (p.Ala686fs)
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
NM_000275.3(OCA2):c.2244+1G>A rs868098120
NM_000275.3(OCA2):c.2244+2T>G
NM_000275.3(OCA2):c.22_23dup (p.Arg9fs)
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser)
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) rs774822330
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2336del (p.Gly779fs) rs1261095563
NM_000275.3(OCA2):c.2338+1G>A
NM_000275.3(OCA2):c.2338+2T>G rs1064796956
NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs) rs781001810
NM_000275.3(OCA2):c.2401G>T (p.Gly801Ter)
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter) rs2035478131
NM_000275.3(OCA2):c.2477_2478del (p.Cys826fs)
NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter)
NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)
NM_000275.3(OCA2):c.274del (p.Ser92fs) rs778613495
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter) rs959570803
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
NM_000275.3(OCA2):c.408_409del (p.Arg137fs)
NM_000275.3(OCA2):c.427G>T (p.Glu143Ter)
NM_000275.3(OCA2):c.460G>T (p.Glu154Ter)
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter)
NM_000275.3(OCA2):c.482del (p.Ser161fs)
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter) rs2141347507
NM_000275.3(OCA2):c.574-1G>C
NM_000275.3(OCA2):c.612G>A (p.Trp204Ter)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.646+1G>T rs1046172334
NM_000275.3(OCA2):c.655_658dup (p.Ser220delinsThrTer)
NM_000275.3(OCA2):c.669_675dup (p.Thr226fs)
NM_000275.3(OCA2):c.731del (p.Pro244fs)
NM_000275.3(OCA2):c.74_78del (p.Pro25fs) rs747408689
NM_000275.3(OCA2):c.759del (p.Glu253fs)
NM_000275.3(OCA2):c.766C>T (p.Gln256Ter)
NM_000275.3(OCA2):c.808-1G>C
NM_000275.3(OCA2):c.808-3C>G
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) rs759876062
NM_000275.3(OCA2):c.867del (p.Ser289fs) rs794727898
NM_000275.3(OCA2):c.903del (p.Ile302fs)
NM_000275.3(OCA2):c.916del (p.Ala306fs) rs2141229433
NM_000275.3(OCA2):c.925C>T (p.Gln309Ter)
NM_000275.3(OCA2):c.934C>T (p.Gln312Ter)
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) rs747395624
NM_000275.3(OCA2):c.961C>T (p.Gln321Ter)
NM_000275.3(OCA2):c.966C>A (p.Tyr322Ter)
Single allele

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