ClinVar Miner

List of variants in gene OCA2 studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1
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
NG_009846.1:g.103171_225796del
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs)
NM_000275.3(OCA2):c.*166C>T rs182290687
NM_000275.3(OCA2):c.*21G>A rs369189827
NM_000275.3(OCA2):c.*300T>C rs776180839
NM_000275.3(OCA2):c.*50A>G rs7175266
NM_000275.3(OCA2):c.-109T>C rs886051027
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000275.3(OCA2):c.1044+1G>T rs185504549
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) rs1566767423
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.3(OCA2):c.1120_1123del (p.Pro374fs)
NM_000275.3(OCA2):c.1182+1G>A rs371963034
NM_000275.3(OCA2):c.1182+2dup rs1567200202
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171
NM_000275.3(OCA2):c.1183-4A>G rs10852218
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1239+5G>C rs757119713
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) rs886051024
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804
NM_000275.3(OCA2):c.1364+4C>T rs1800409
NM_000275.3(OCA2):c.1365-15C>T rs12910433
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) rs886051023
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser) rs763819379
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1460C>A (p.Pro487His)
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.1504-12_1504-9del rs886051022
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) rs886051021
NM_000275.3(OCA2):c.1637-2A>G
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947
NM_000275.3(OCA2):c.1785-7C>G rs375281082
NM_000275.3(OCA2):c.1842+1G>T rs387906240
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1951+4A>G rs759740402
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) rs879253729
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) rs200457227
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.2432+11A>G rs145577954
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779
NM_000275.3(OCA2):c.681del (p.Leu228fs) rs1566803740
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.807+1G>T rs763219039
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.85G>A (p.Ala29Thr) rs759291231
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) rs1566797858
Single allele
nsv1197574

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