ClinVar Miner

List of variants in gene OCA2 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
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.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) rs529219961 0.00048
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.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.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
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.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu) rs145880356 0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839 0.00002
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379 0.00001
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg) rs1555440003 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_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.122del (p.Gly41fs) rs1407174563
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.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.1808del (p.Asn603fs) rs1476192724
NM_000275.3(OCA2):c.1843-9_1843-6del rs2140620111
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)

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