ClinVar Miner

List of variants in gene OCA2 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
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.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
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.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) rs200692258 0.00011
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 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.941T>G (p.Val314Gly) rs762262964 0.00004
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) rs1312967591 0.00002
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236 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.1328T>C (p.Val443Ala) rs1325388159 0.00001
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg) rs751822606 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000275.3(OCA2):c.2245-1G>A rs1344047706 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.286G>A (p.Glu96Lys) rs372184971 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NC_000015.9:g.(?_28000534)_(28000638_?)dup
NC_000015.9:g.(?_28090085)_(28277329_?)dup
NC_000015.9:g.(?_28202714)_(28211988_?)dup
NC_000015.9:g.(?_28228471)_(28228649_?)dup
NC_000015.9:g.(?_28228471)_(28277329_?)dup
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1116+2T>C rs748537823
NM_000275.3(OCA2):c.1117-1G>C
NM_000275.3(OCA2):c.1183A>T (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1239+1G>C
NM_000275.3(OCA2):c.1239+1G>T
NM_000275.3(OCA2):c.1239+2T>A
NM_000275.3(OCA2):c.1240-1G>C
NM_000275.3(OCA2):c.1258_1264del (p.Gly420fs) rs2140980232
NM_000275.3(OCA2):c.1321G>A (p.Asp441Asn)
NM_000275.3(OCA2):c.1324_1326del (p.Asn442del) rs2140979313
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val)
NM_000275.3(OCA2):c.1400T>A (p.Val467Asp) rs2140965404
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1454G>T (p.Gly485Val)
NM_000275.3(OCA2):c.1514T>C (p.Phe505Ser)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.1636+1G>T
NM_000275.3(OCA2):c.1636+2T>A
NM_000275.3(OCA2):c.1636+2T>G
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.1970G>T (p.Gly657Val)
NM_000275.3(OCA2):c.2030T>C (p.Val677Ala) rs2140371787
NM_000275.3(OCA2):c.2062C>T (p.Leu688Phe)
NM_000275.3(OCA2):c.2079+1G>A
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
NM_000275.3(OCA2):c.2223C>A (p.Asn741Lys)
NM_000275.3(OCA2):c.227+1G>T
NM_000275.3(OCA2):c.227+1_227+15del rs2044626810
NM_000275.3(OCA2):c.228-2A>G
NM_000275.3(OCA2):c.2317del (p.Ala773fs)
NM_000275.3(OCA2):c.2433-14T>G
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)
NM_000275.3(OCA2):c.327-2A>G
NM_000275.3(OCA2):c.515+1G>A
NM_000275.3(OCA2):c.516-2A>G
NM_000275.3(OCA2):c.573+2_573+3del
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.646+1G>A
NM_000275.3(OCA2):c.647-12_647-1del
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) rs759876062
NM_000275.3(OCA2):c.890+1G>A rs2042382744
NM_000275.3(OCA2):c.891-10C>A rs1244128314
NM_000275.3(OCA2):c.891-2A>G

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