ClinVar Miner

List of variants reported as uncertain significance for oculocutaneous albinism type 2

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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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.79G>A (p.Gly27Arg) rs61738394 0.00532
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.1744C>T (p.Leu582=) rs61751032 0.00302
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.*166C>T rs182290687 0.00209
NM_000275.3(OCA2):c.*367C>G rs75043266 0.00196
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000275.3(OCA2):c.*54A>G rs192734230 0.00144
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
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.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) rs140566426 0.00044
NM_002386.4(MC1R):c.112G>A (p.Val38Met) rs200050206 0.00040
NM_000275.3(OCA2):c.751G>A (p.Val251Met) rs147432138 0.00038
NM_000275.3(OCA2):c.1364+4C>T rs1800409 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.1503+7A>T rs199875420 0.00026
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.-109T>C rs886051027 0.00022
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) rs141611162 0.00021
NM_002386.4(MC1R):c.332C>T (p.Ala111Val) rs201489928 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_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NM_000275.3(OCA2):c.*300T>C rs776180839 0.00014
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997 0.00014
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) rs34141095 0.00011
NM_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_002386.4(MC1R):c.577G>A (p.Val193Met) rs527673999 0.00011
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg) rs527697723 0.00010
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 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.2432+11A>G rs145577954 0.00009
NM_000275.3(OCA2):c.972C>T (p.Arg324=) rs368832716 0.00009
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_000275.3(OCA2):c.2169C>T (p.Ala723=) rs370020051 0.00007
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr) rs756251130 0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) rs763734477 0.00006
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779 0.00006
NM_000275.3(OCA2):c.914G>A (p.Arg305Gln) rs141603023 0.00006
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000275.3(OCA2):c.1656C>T (p.His552=) rs777131634 0.00005
NM_000275.3(OCA2):c.*21G>A rs369189827 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707 0.00004
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231 0.00004
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr) rs779504604 0.00003
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) rs769550106 0.00002
NM_000275.3(OCA2):c.1456G>T (p.Asp486Tyr) rs772324459 0.00002
NM_000275.3(OCA2):c.1784+6G>A rs779188429 0.00002
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141 0.00002
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_002386.4(MC1R):c.583T>G (p.Phe195Val) rs377580634 0.00002
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025 0.00001
NM_000275.3(OCA2):c.1337T>C (p.Met446Thr) rs1185751753 0.00001
NM_000275.3(OCA2):c.162G>A (p.Gly54=) rs1391198560 0.00001
NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu) rs763016773 0.00001
NM_000275.3(OCA2):c.1864C>T (p.Leu622=) rs543493041 0.00001
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937 0.00001
NM_000275.3(OCA2):c.2361G>A (p.Ala787=) rs763462686 0.00001
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218 0.00001
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142 0.00001
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) rs201481836 0.00001
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr) rs1376244060 0.00001
NM_000275.3(OCA2):c.*371G>C rs112155098
NM_000275.3(OCA2):c.*410C>A rs2030222775
NM_000275.3(OCA2):c.1054A>G (p.Arg352Gly)
NM_000275.3(OCA2):c.1066G>C (p.Ala356Pro)
NM_000275.3(OCA2):c.1183A>G (p.Met395Val)
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) rs886051024
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) rs886051023
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) rs886051021
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.1842+6C>T rs2040177115
NM_000275.3(OCA2):c.1952-7T>G
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2229G>A (p.Pro743=) rs41307118
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) rs2141895899
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) rs139837760
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr) rs144064082
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu) rs747340554
NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp) rs2030274876
NM_000275.3(OCA2):c.515G>A (p.Arg172Lys) rs762091768
NM_000275.3(OCA2):c.516-3C>A
NM_000275.3(OCA2):c.574-53C>G
NM_000275.3(OCA2):c.654C>A (p.Asn218Lys) rs2042479500
NM_000275.3(OCA2):c.681del (p.Leu228fs) rs1566803740
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446
NM_000275.3(OCA2):c.885G>A (p.Leu295=) rs2042383052
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312

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