ClinVar Miner

List of variants in gene OCA2 reported as likely pathogenic for oculocutaneous albinism type 2

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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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.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.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) rs767182132 0.00010
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.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 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.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839 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.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) rs2041233832 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.583A>G (p.Ser195Gly) rs767092342 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.1045-10T>G
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) rs200398581
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
NM_000275.3(OCA2):c.1116+6T>C
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro) rs1595764680
NM_000275.3(OCA2):c.1319T>C (p.Leu440Ser) rs2041306355
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1460C>A (p.Pro487His) rs1595760903
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.1637-2A>G rs1595717218
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys) rs2140706418
NM_000275.3(OCA2):c.1657_1675del (p.Val553fs) rs2040273876
NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs) rs2140704811
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)
NM_000275.3(OCA2):c.1860G>C (p.Gly620=) rs2140619474
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) rs879253729
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val) rs749249918
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) rs2140372179
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)
NM_000275.3(OCA2):c.2244+1G>C
NM_000275.3(OCA2):c.2300C>T (p.Pro767Leu)
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
NM_000275.3(OCA2):c.515+1G>A
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.808-1_817del
NM_000275.3(OCA2):c.808_817del (p.Val270fs)
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.890+1G>A rs2042382744

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