ClinVar Miner

List of variants in gene OCA2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 306
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.*1T>C rs138228425 0.00081
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
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.45G>A (p.Pro15=) rs202091837 0.00028
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) rs199752361 0.00024
NM_000275.3(OCA2):c.647-3G>A rs572955525 0.00023
NM_000275.3(OCA2):c.1717C>T (p.Arg573Cys) rs140556122 0.00022
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) rs141611162 0.00021
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) rs148066812 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1297G>A (p.Ala433Thr) rs749410903 0.00014
NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu) rs201904219 0.00014
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) rs34141095 0.00011
NM_000275.3(OCA2):c.371A>C (p.Glu124Ala) rs368106059 0.00011
NM_000275.3(OCA2):c.407G>A (p.Arg136Gln) rs35764631 0.00011
NM_000275.3(OCA2):c.600A>T (p.Gln200His) rs139562520 0.00010
NM_000275.3(OCA2):c.1528G>A (p.Ala510Thr) rs201590781 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.1678C>T (p.Arg560Cys) rs147905292 0.00007
NM_000275.3(OCA2):c.2297C>T (p.Pro766Leu) rs563235254 0.00007
NM_000275.3(OCA2):c.1021G>A (p.Val341Ile) rs368159473 0.00006
NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln) rs369322694 0.00006
NM_000275.3(OCA2):c.1430T>C (p.Ile477Thr) rs148413474 0.00006
NM_000275.3(OCA2):c.169G>A (p.Gly57Arg) rs372901106 0.00006
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) rs763734477 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000275.3(OCA2):c.1843C>T (p.His615Tyr) rs755768280 0.00005
NM_000275.3(OCA2):c.2233A>G (p.Thr745Ala) rs150990900 0.00005
NM_000275.3(OCA2):c.2501T>A (p.Val834Glu) rs759396151 0.00005
NM_000275.3(OCA2):c.793C>T (p.Arg265Trp) rs750298814 0.00005
NM_000275.3(OCA2):c.100G>A (p.Gly34Ser) rs367553582 0.00004
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.1234G>A (p.Val412Ile) rs373759416 0.00004
NM_000275.3(OCA2):c.1273A>G (p.Met425Val) rs201484597 0.00004
NM_000275.3(OCA2):c.1574C>T (p.Pro525Leu) rs754777148 0.00004
NM_000275.3(OCA2):c.158G>A (p.Arg53Lys) rs1034863880 0.00004
NM_000275.3(OCA2):c.1858G>A (p.Gly620Arg) rs746102630 0.00004
NM_000275.3(OCA2):c.1870G>A (p.Ala624Thr) rs373739951 0.00004
NM_000275.3(OCA2):c.1897G>A (p.Val633Ile) rs1372200062 0.00004
NM_000275.3(OCA2):c.530_532del (p.Trp177del) rs763726841 0.00004
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231 0.00004
NM_000275.3(OCA2):c.1044+5C>T rs372130852 0.00003
NM_000275.3(OCA2):c.1048G>A (p.Val350Met) rs533478642 0.00003
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707 0.00003
NM_000275.3(OCA2):c.1756C>T (p.Leu586Phe) rs918693810 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.573+3G>A rs751829678 0.00003
NM_000275.3(OCA2):c.1118G>T (p.Arg373Ile) rs1444457881 0.00002
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) rs769550106 0.00002
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) rs376863406 0.00002
NM_000275.3(OCA2):c.1298C>T (p.Ala433Val) rs780239785 0.00002
NM_000275.3(OCA2):c.1399G>A (p.Val467Ile) rs750011165 0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) rs779086242 0.00002
NM_000275.3(OCA2):c.178T>C (p.Ser60Pro) rs1482513844 0.00002
NM_000275.3(OCA2):c.1850T>C (p.Ile617Thr) rs775588367 0.00002
NM_000275.3(OCA2):c.2060C>T (p.Ala687Val) rs773980859 0.00002
NM_000275.3(OCA2):c.2290C>G (p.Pro764Ala) rs772775471 0.00002
NM_000275.3(OCA2):c.2354T>C (p.Ile785Thr) rs148153776 0.00002
NM_000275.3(OCA2):c.257G>C (p.Ser86Thr) rs1024467465 0.00002
NM_000275.3(OCA2):c.794G>A (p.Arg265Gln) rs567007076 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000275.3(OCA2):c.965A>G (p.Tyr322Cys) rs573678989 0.00002
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1016C>T (p.Ala339Val) rs747940330 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443 0.00001
NM_000275.3(OCA2):c.1246C>T (p.Arg416Trp) rs756482913 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1364+5G>A rs751956177 0.00001
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) rs2041233832 0.00001
NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser) rs531606889 0.00001
NM_000275.3(OCA2):c.1606C>A (p.Leu536Ile) rs1394413927 0.00001
NM_000275.3(OCA2):c.1715G>A (p.Arg572His) rs754265614 0.00001
NM_000275.3(OCA2):c.1718G>A (p.Arg573His) rs761217860 0.00001
NM_000275.3(OCA2):c.1784+5C>T rs748230308 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg) rs1555440003 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.2095C>A (p.His699Asn) rs150391476 0.00001
NM_000275.3(OCA2):c.2110G>T (p.Val704Phe) rs758611210 0.00001
NM_000275.3(OCA2):c.2123C>A (p.Thr708Asn) rs1335779460 0.00001
NM_000275.3(OCA2):c.2154G>C (p.Glu718Asp) rs752419245 0.00001
NM_000275.3(OCA2):c.2197G>C (p.Ala733Pro) rs1378080763 0.00001
NM_000275.3(OCA2):c.2273A>T (p.Asp758Val) rs752888326 0.00001
NM_000275.3(OCA2):c.2275C>T (p.Pro759Ser) rs765361091 0.00001
NM_000275.3(OCA2):c.2431A>G (p.Arg811Gly) rs1342026238 0.00001
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) rs763881975 0.00001
NM_000275.3(OCA2):c.2506G>A (p.Gly836Arg) rs770934507 0.00001
NM_000275.3(OCA2):c.506C>T (p.Ser169Phe) rs1188916762 0.00001
NM_000275.3(OCA2):c.517C>T (p.Arg173Cys) rs538576672 0.00001
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe) rs1158730024 0.00001
NM_000275.3(OCA2):c.637G>A (p.Glu213Lys) rs2042624978 0.00001
NM_000275.3(OCA2):c.649G>A (p.Val217Met) rs773252077 0.00001
NM_000275.3(OCA2):c.70G>A (p.Val24Met) rs766829294 0.00001
NM_000275.3(OCA2):c.938C>A (p.Ala313Asp) rs1030027107 0.00001
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) rs201481836 0.00001
NM_000275.3(OCA2):c.94G>T (p.Val32Leu) rs1321894065 0.00001
NM_000275.3(OCA2):c.971G>A (p.Arg324His) rs1199627951 0.00001
GRCh37/hg19 15q12-13.1(chr15:28019085-28334324)x1
GRCh37/hg19 15q12-13.1(chr15:28090172-28262709)x1
NC_000015.9:g.(?_28259902)_(28261352_?)dup
NC_000015.9:g.(?_28326774)_(28327020_?)dup
NM_000275.3(OCA2):c.-21-5C>G rs1333200990
NM_000275.3(OCA2):c.1003A>G (p.Thr335Ala)
NM_000275.3(OCA2):c.1015G>A (p.Ala339Thr) rs148468031
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1016C>A (p.Ala339Glu) rs747940330
NM_000275.3(OCA2):c.1027G>C (p.Ala343Pro)
NM_000275.3(OCA2):c.102C>T (p.Gly34=) rs2141897927
NM_000275.3(OCA2):c.1031T>C (p.Leu344Pro) rs1384647542
NM_000275.3(OCA2):c.1064_1065delinsTA (p.Ala355Val)
NM_000275.3(OCA2):c.107G>T (p.Arg36Leu) rs143429491
NM_000275.3(OCA2):c.1086AGCACTGGC[3] (p.Ala368_Val369insAlaLeuAla)
NM_000275.3(OCA2):c.1114G>A (p.Asp372Asn)
NM_000275.3(OCA2):c.1116+3A>G
NM_000275.3(OCA2):c.1120C>T (p.Pro374Ser)
NM_000275.3(OCA2):c.1138G>A (p.Val380Met) rs41529845
NM_000275.3(OCA2):c.1138G>C (p.Val380Leu) rs41529845
NM_000275.3(OCA2):c.1158G>T (p.Glu386Asp)
NM_000275.3(OCA2):c.1163T>C (p.Leu388Pro)
NM_000275.3(OCA2):c.1174T>C (p.Phe392Leu)
NM_000275.3(OCA2):c.1183-4_1183-3delinsGC rs2140989991
NM_000275.3(OCA2):c.1184T>C (p.Met395Thr)
NM_000275.3(OCA2):c.1205C>T (p.Ser402Leu)
NM_000275.3(OCA2):c.1213G>A (p.Gly405Arg)
NM_000275.3(OCA2):c.1228T>C (p.Cys410Arg)
NM_000275.3(OCA2):c.1247G>A (p.Arg416Gln)
NM_000275.3(OCA2):c.1247G>C (p.Arg416Pro) rs750843354
NM_000275.3(OCA2):c.1253C>T (p.Ser418Phe)
NM_000275.3(OCA2):c.1255C>G (p.Arg419Gly)
NM_000275.3(OCA2):c.1267T>C (p.Trp423Arg)
NM_000275.3(OCA2):c.1274T>C (p.Met425Thr)
NM_000275.3(OCA2):c.1289G>A (p.Cys430Tyr) rs1189453897
NM_000275.3(OCA2):c.1306C>G (p.Leu436Val)
NM_000275.3(OCA2):c.1324A>G (p.Asn442Asp) rs1595764495
NM_000275.3(OCA2):c.1354G>C (p.Val452Leu) rs1444988470
NM_000275.3(OCA2):c.1355T>C (p.Val452Ala) rs2041303370
NM_000275.3(OCA2):c.1364+6C>A rs2140978517
NM_000275.3(OCA2):c.1429A>G (p.Ile477Val) rs1050639691
NM_000275.3(OCA2):c.1438G>C (p.Ala480Pro) rs765246177
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr) rs121918170
NM_000275.3(OCA2):c.1488A>T (p.Gln496His)
NM_000275.3(OCA2):c.1491G>C (p.Glu497Asp)
NM_000275.3(OCA2):c.1503+4C>T
NM_000275.3(OCA2):c.1513T>G (p.Phe505Val)
NM_000275.3(OCA2):c.1534A>G (p.Met512Val) rs1439320132
NM_000275.3(OCA2):c.1536G>A (p.Met512Ile) rs762173959
NM_000275.3(OCA2):c.1541T>C (p.Ile514Thr)
NM_000275.3(OCA2):c.1556T>C (p.Val519Ala)
NM_000275.3(OCA2):c.1558C>T (p.Leu520Phe)
NM_000275.3(OCA2):c.155C>G (p.Pro52Arg) rs200885801
NM_000275.3(OCA2):c.1568G>A (p.Cys523Tyr) rs778609798
NM_000275.3(OCA2):c.1579C>G (p.Leu527Val) rs2140825012
NM_000275.3(OCA2):c.157A>G (p.Arg53Gly)
NM_000275.3(OCA2):c.157A>T (p.Arg53Trp)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)
NM_000275.3(OCA2):c.1603A>G (p.Lys535Glu)
NM_000275.3(OCA2):c.1612A>G (p.Asn538Asp) rs1304719929
NM_000275.3(OCA2):c.1626T>A (p.Ser542Arg)
NM_000275.3(OCA2):c.1630A>G (p.Ile544Val) rs1172037395
NM_000275.3(OCA2):c.1631T>G (p.Ile544Ser) rs34141095
NM_000275.3(OCA2):c.1633G>A (p.Val545Ile) rs1381951592
NM_000275.3(OCA2):c.1636+6T>G rs2140823543
NM_000275.3(OCA2):c.1637-3C>A
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro) rs768169106
NM_000275.3(OCA2):c.1670C>T (p.Thr557Ile) rs775106432
NM_000275.3(OCA2):c.1679G>T (p.Arg560Leu) rs35110389
NM_000275.3(OCA2):c.1684A>C (p.Ser562Arg)
NM_000275.3(OCA2):c.1697G>A (p.Arg566His)
NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro) rs2140704912
NM_000275.3(OCA2):c.1712T>C (p.Val571Ala)
NM_000275.3(OCA2):c.1715G>C (p.Arg572Pro)
NM_000275.3(OCA2):c.1741G>A (p.Ala581Thr) rs2140704302
NM_000275.3(OCA2):c.1745T>C (p.Leu582Pro)
NM_000275.3(OCA2):c.1752C>G (p.His584Gln)
NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr)
NM_000275.3(OCA2):c.1763G>A (p.Arg588Gln)
NM_000275.3(OCA2):c.1765A>T (p.Arg589Trp) rs1251628913
NM_000275.3(OCA2):c.1784+3A>C rs772202517
NM_000275.3(OCA2):c.1784+3A>G
NM_000275.3(OCA2):c.1785A>G (p.Arg595=)
NM_000275.3(OCA2):c.1843-9_1843-6del rs2140620111
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly)
NM_000275.3(OCA2):c.1862T>C (p.Ile621Thr) rs2140619427
NM_000275.3(OCA2):c.1892G>C (p.Gly631Ala)
NM_000275.3(OCA2):c.1897G>T (p.Val633Phe) rs1372200062
NM_000275.3(OCA2):c.1906A>G (p.Met636Val)
NM_000275.3(OCA2):c.1919A>G (p.Asn640Ser)
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1948C>T (p.Leu650Phe)
NM_000275.3(OCA2):c.1952-19T>G
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.197A>G (p.Gln66Arg)
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys) rs1567114551
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) rs2140372179
NM_000275.3(OCA2):c.1985T>A (p.Leu662Gln) rs2140372156
NM_000275.3(OCA2):c.1992A>C (p.Leu664Phe)
NM_000275.3(OCA2):c.1999A>G (p.Ile667Val) rs779938295
NM_000275.3(OCA2):c.2018T>A (p.Ile673Asn)
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
NM_000275.3(OCA2):c.2059G>A (p.Ala687Thr)
NM_000275.3(OCA2):c.205G>A (p.Ala69Thr)
NM_000275.3(OCA2):c.2069T>C (p.Val690Ala)
NM_000275.3(OCA2):c.2079+3A>G rs2140370979
NM_000275.3(OCA2):c.2079+4A>C rs2140370958
NM_000275.3(OCA2):c.2079+5G>T rs745930102
NM_000275.3(OCA2):c.2087C>T (p.Ala696Val) rs2036594092
NM_000275.3(OCA2):c.2177T>C (p.Val726Ala)
NM_000275.3(OCA2):c.217A>G (p.Thr73Ala) rs2141895947
NM_000275.3(OCA2):c.2226C>G (p.Ile742Met)
NM_000275.3(OCA2):c.2229_2230delinsAA (p.Phe744Ile)
NM_000275.3(OCA2):c.2242A>G (p.Met748Val)
NM_000275.3(OCA2):c.2244+5G>A
NM_000275.3(OCA2):c.2245-11T>C rs1185797148
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) rs2141895899
NM_000275.3(OCA2):c.2255T>C (p.Leu752Pro)
NM_000275.3(OCA2):c.2267G>T (p.Ser756Ile)
NM_000275.3(OCA2):c.226A>T (p.Arg76Trp)
NM_000275.3(OCA2):c.2271C>G (p.His757Gln)
NM_000275.3(OCA2):c.2272G>A (p.Asp758Asn)
NM_000275.3(OCA2):c.2273A>G (p.Asp758Gly) rs752888326
NM_000275.3(OCA2):c.2278G>A (p.Glu760Lys)
NM_000275.3(OCA2):c.227G>A (p.Arg76Lys)
NM_000275.3(OCA2):c.2282T>C (p.Val761Ala) rs143116542
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) rs139837760
NM_000275.3(OCA2):c.2309A>G (p.Tyr770Cys)
NM_000275.3(OCA2):c.2311G>T (p.Ala771Ser)
NM_000275.3(OCA2):c.2335G>A (p.Gly779Arg) rs2151412205
NM_000275.3(OCA2):c.2370CGT[1] (p.Val792del)
NM_000275.3(OCA2):c.2383G>C (p.Gly795Arg)
NM_000275.3(OCA2):c.2389G>T (p.Ala797Ser)
NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys) rs781471173
NM_000275.3(OCA2):c.2403A>G (p.Gly801=) rs1170388631
NM_000275.3(OCA2):c.2414C>G (p.Ser805Cys)
NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu) rs765779905
NM_000275.3(OCA2):c.2437G>A (p.Gly813Ser)
NM_000275.3(OCA2):c.2446A>G (p.Met816Val)
NM_000275.3(OCA2):c.2451G>A (p.Met817Ile)
NM_000275.3(OCA2):c.2459C>A (p.Ser820Tyr)
NM_000275.3(OCA2):c.245C>G (p.Pro82Arg)
NM_000275.3(OCA2):c.2464A>C (p.Thr822Pro)
NM_000275.3(OCA2):c.2475G>A (p.Met825Ile)
NM_000275.3(OCA2):c.2494C>T (p.His832Tyr) rs200918662
NM_000275.3(OCA2):c.2498TGG[2] (p.Val835del) rs751440917
NM_000275.3(OCA2):c.2503del (p.Val835fs)
NM_000275.3(OCA2):c.271_272delinsTT (p.Asp91Phe) rs2141380377
NM_000275.3(OCA2):c.300G>C (p.Leu100Phe)
NM_000275.3(OCA2):c.306G>T (p.Arg102Ser)
NM_000275.3(OCA2):c.326G>C (p.Gly109Ala)
NM_000275.3(OCA2):c.327G>A (p.Gly109=) rs751357554
NM_000275.3(OCA2):c.34C>A (p.Pro12Thr)
NM_000275.3(OCA2):c.352C>A (p.Pro118Thr)
NM_000275.3(OCA2):c.407G>C (p.Arg136Pro)
NM_000275.3(OCA2):c.44C>A (p.Pro15Gln) rs201291702
NM_000275.3(OCA2):c.455C>T (p.Ser152Phe)
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr) rs2044640419
NM_000275.3(OCA2):c.470A>T (p.Asp157Val) rs2141347910
NM_000275.3(OCA2):c.485C>T (p.Pro162Leu)
NM_000275.3(OCA2):c.515+3A>G rs2042801145
NM_000275.3(OCA2):c.515+6C>T
NM_000275.3(OCA2):c.515G>C (p.Arg172Thr)
NM_000275.3(OCA2):c.518G>A (p.Arg173His)
NM_000275.3(OCA2):c.553G>T (p.Ala185Ser) rs2042701586
NM_000275.3(OCA2):c.573+6T>C rs2042700750
NM_000275.3(OCA2):c.605A>G (p.Lys202Arg)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.638A>T (p.Glu213Val)
NM_000275.3(OCA2):c.646+1G>A
NM_000275.3(OCA2):c.647C>T (p.Ser216Phe) rs2141261889
NM_000275.3(OCA2):c.649G>C (p.Val217Leu) rs773252077
NM_000275.3(OCA2):c.660C>G (p.Ser220Arg)
NM_000275.3(OCA2):c.677C>T (p.Thr226Met)
NM_000275.3(OCA2):c.728G>A (p.Arg243His)
NM_000275.3(OCA2):c.733G>T (p.Gly245Trp) rs1439057856
NM_000275.3(OCA2):c.744_746dup (p.Glu248_His249insGln) rs2141260656
NM_000275.3(OCA2):c.757G>A (p.Glu253Lys)
NM_000275.3(OCA2):c.761T>G (p.Leu254Arg)
NM_000275.3(OCA2):c.792G>T (p.Trp264Cys) rs755904696
NM_000275.3(OCA2):c.808-10_808-9delinsTT
NM_000275.3(OCA2):c.811A>G (p.Thr271Ala) rs2141241183
NM_000275.3(OCA2):c.815A>G (p.His272Arg)
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.824C>G (p.Thr275Arg) rs369750458
NM_000275.3(OCA2):c.824C>T (p.Thr275Met) rs369750458
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446
NM_000275.3(OCA2):c.872C>T (p.Thr291Ile) rs2141240247
NM_000275.3(OCA2):c.894G>C (p.Glu298Asp)
NM_000275.3(OCA2):c.904A>G (p.Ile302Val)
NM_000275.3(OCA2):c.976A>G (p.Ser326Gly)
NM_000275.3(OCA2):c.979G>A (p.Val327Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.