ClinVar Miner

List of variants reported as likely benign for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
Download table as spreadsheet
HGVS dbSNP
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281
NM_000081.4(LYST):c.10965G>A (p.Ala3655=) rs762254542
NM_000081.4(LYST):c.111G>A (p.Thr37=) rs144446737
NM_000081.4(LYST):c.11268-6_11268-5del
NM_000081.4(LYST):c.11382C>T (p.Phe3794=) rs111770759
NM_000081.4(LYST):c.1875A>G (p.Gly625=) rs1572336238
NM_000081.4(LYST):c.2040C>T (p.Ser680=) rs1572335678
NM_000081.4(LYST):c.2148C>T (p.Cys716=) rs1572335431
NM_000081.4(LYST):c.2363+7A>T rs1572334659
NM_000081.4(LYST):c.2757G>A (p.Ser919=) rs753541871
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.3702C>A (p.Thr1234=) rs151187564
NM_000081.4(LYST):c.3876A>G (p.Val1292=) rs144664809
NM_000081.4(LYST):c.4006+8G>A rs369153654
NM_000081.4(LYST):c.4065A>G (p.Ser1355=) rs371738691
NM_000081.4(LYST):c.4455T>C (p.His1485=) rs372271452
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206
NM_000081.4(LYST):c.5001G>A (p.Leu1667=) rs748942618
NM_000081.4(LYST):c.5013T>C (p.Leu1671=) rs1572239437
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5058G>A (p.Leu1686=) rs780562886
NM_000081.4(LYST):c.5418C>T (p.His1806=) rs146990900
NM_000081.4(LYST):c.588T>C (p.Pro196=) rs147724454
NM_000081.4(LYST):c.5997C>T (p.Val1999=) rs778100106
NM_000081.4(LYST):c.603C>T (p.Pro201=) rs146354628
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6225A>G (p.Pro2075=) rs761762580
NM_000081.4(LYST):c.6432A>G (p.Ser2144=) rs145080654
NM_000081.4(LYST):c.6570C>T (p.Val2190=) rs1572170906
NM_000081.4(LYST):c.66A>C (p.Ala22=) rs757708194
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.4(LYST):c.7229+3A>G rs529306869
NM_000081.4(LYST):c.7797C>A (p.Pro2599=) rs141827492
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368
NM_000081.4(LYST):c.8205T>G (p.Ser2735=) rs147539199
NM_000081.4(LYST):c.8268C>T (p.His2756=) rs141534829
NM_000081.4(LYST):c.9681C>G (p.Pro3227=) rs371806766
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.*736C>T rs149708847
NM_000195.5(HPS1):c.-219C>G
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000275.3(OCA2):c.*271G>A
NM_000275.3(OCA2):c.126C>T (p.Ala42=)
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234
NM_000550.3(TYRP1):c.*229C>G
NM_000550.3(TYRP1):c.*509C>A rs74941076
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp)
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_001301365.1(LYST):c.-7-14T>C
NM_001301365.1(LYST):c.-98+16250G>C
NM_001301365.1(LYST):c.10221C>T (p.Tyr3407=) rs146457386
NM_001301365.1(LYST):c.10477T>C (p.Phe3493Leu) rs200511787
NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11086G>A (p.Val3696Ile) rs147221131
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.1384C>T (p.Pro462Ser) rs77848653
NM_001301365.1(LYST):c.1494A>G (p.Arg498=) rs201412615
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1686G>C (p.Gln562His) rs77091385
NM_001301365.1(LYST):c.196T>C (p.Leu66=) rs138393416
NM_001301365.1(LYST):c.2310T>C (p.Pro770=)
NM_001301365.1(LYST):c.2313G>A (p.Gln771=) rs147220685
NM_001301365.1(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.2724C>T (p.Cys908=) rs201440611
NM_001301365.1(LYST):c.2754G>A (p.Glu918=) rs373577384
NM_001301365.1(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_001301365.1(LYST):c.2946T>C (p.Tyr982=) rs145892183
NM_001301365.1(LYST):c.3030A>G (p.Gly1010=) rs751511204
NM_001301365.1(LYST):c.3217A>G (p.Ile1073Val) rs151130915
NM_001301365.1(LYST):c.3324C>T (p.Ala1108=)
NM_001301365.1(LYST):c.3507C>T (p.Leu1169=) rs74861744
NM_001301365.1(LYST):c.3683A>G (p.Asn1228Ser) rs145553827
NM_001301365.1(LYST):c.368A>G (p.His123Arg) rs3768067
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln) rs111722949
NM_001301365.1(LYST):c.4377G>A (p.Pro1459=)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.4416T>C (p.Gly1472=)
NM_001301365.1(LYST):c.4566A>C (p.Ala1522=) rs142344106
NM_001301365.1(LYST):c.4637C>T (p.Ala1546Val) rs142983846
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.5635-4A>G rs754201076
NM_001301365.1(LYST):c.5883A>G (p.Gln1961=)
NM_001301365.1(LYST):c.5922+10A>G rs375422713
NM_001301365.1(LYST):c.597C>G (p.Asp199Glu) rs112127610
NM_001301365.1(LYST):c.6264C>T (p.Ser2088=) rs748529967
NM_001301365.1(LYST):c.6279A>G (p.Pro2093=)
NM_001301365.1(LYST):c.6291C>T (p.Ala2097=) rs199857997
NM_001301365.1(LYST):c.6292G>A (p.Ala2098Thr) rs146091043
NM_001301365.1(LYST):c.6388G>A (p.Asp2130Asn) rs148371004
NM_001301365.1(LYST):c.6455G>A (p.Ser2152Asn) rs147761755
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.6632C>G (p.Pro2211Arg) rs138972355
NM_001301365.1(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_001301365.1(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.777T>C (p.His259=)
NM_001301365.1(LYST):c.7806A>G (p.Gln2602=) rs372754364
NM_001301365.1(LYST):c.7870C>T (p.Arg2624Trp) rs150306354
NM_001301365.1(LYST):c.7920G>A (p.Ala2640=)
NM_001301365.1(LYST):c.8368A>C (p.Lys2790Gln) rs138506576
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=) rs144597913
NM_001301365.1(LYST):c.8497G>A (p.Ala2833Thr) rs200813210
NM_001301365.1(LYST):c.8607A>G (p.Gln2869=) rs369484787
NM_001301365.1(LYST):c.8624G>A (p.Arg2875His)
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys) rs34702903
NM_001301365.1(LYST):c.9162+11G>A
NM_001301365.1(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_001301365.1(LYST):c.957G>A (p.Pro319=)
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808
NM_001349896.1(HPS4):c.-185A>G rs188205202
NM_001349896.1(HPS4):c.-395A>C rs147631281
NM_001349896.1(HPS4):c.-479+40A>G rs3747137
NM_001349896.1(HPS4):c.-494T>G rs187762406
NM_001349896.1(HPS4):c.-570G>T rs753668169
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val) rs191850940
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) rs115747826
NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) rs112652327
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_003664.5(AP3B1):c.1230+10C>T rs1580431334
NM_003664.5(AP3B1):c.129-14_129-10del rs982597895
NM_003664.5(AP3B1):c.1651-5A>G rs1356238571
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945
NM_003664.5(AP3B1):c.1969-10G>A rs77009095
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=) rs551799202
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=) rs144240072
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=) rs747086403
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) rs1263221940
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) rs746152289
NM_003664.5(AP3B1):c.306G>C (p.Leu102=) rs746322233
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.5(AP3B1):c.648G>A (p.Pro216=) rs773924247
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_012388.3(BLOC1S6):c.*1706G>A rs7181436
NM_012388.3(BLOC1S6):c.*188T>C rs58509170
NM_012388.3(BLOC1S6):c.*797T>A rs11638237
NM_012388.3(BLOC1S6):c.-153G>A rs115857479
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=) rs372182517
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=) rs114872740
NM_014324.6(AMACR):c.*1070C>T rs16892064
NM_014324.6(AMACR):c.*1144A>G rs840380
NM_014324.6(AMACR):c.*1961G>A rs113746028
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*617G>T rs12659370
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.*963C>T rs6898962
NM_014324.6(AMACR):c.*982C>T rs16892066
NM_016180.5(SLC45A2):c.*24A>C
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
NM_032122.4(DTNBP1):c.*105A>G rs1047631
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
NM_032122.5(DTNBP1):c.667+2C>T rs61739410
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454
NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.884+25del rs10693502
NM_152841.2(HPS4):c.*1253G>A rs534586940
NM_152841.2(HPS4):c.*1589C>A rs117397456
NM_152841.2(HPS4):c.*1850G>A
NM_152841.2(HPS4):c.*751G>A rs190837977
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.1685C>T (p.Ala562Val) rs140234219
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.1884C>T (p.Val628=) rs35993959
NM_152841.2(HPS4):c.235A>G (p.Ile79Val) rs149830675
NM_152841.2(HPS4):c.543G>A (p.Ser181=) rs13054747
NM_152841.2(HPS4):c.681G>A (p.Pro227=) rs3747132
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1785-13C>T rs73430857
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_183235.3(RAB27A):c.*132G>A
NM_183235.3(RAB27A):c.*1493T>A
NM_183235.3(RAB27A):c.*2160A>G
NM_183235.3(RAB27A):c.*2216A>G
NM_183235.3(RAB27A):c.*668A>G
NM_183235.3(RAB27A):c.*725C>T
NM_183235.3(RAB27A):c.-142-65C>G
NM_183235.3(RAB27A):c.-142-86A>T
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.276T>C (p.Ala92=) rs376589113
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552
NM_212550.4(BLOC1S3):c.*1086G>A rs116251719
NM_212550.4(BLOC1S3):c.*1286T>C rs79968982
NM_212550.4(BLOC1S3):c.*1471C>T rs73939649
NM_212550.4(BLOC1S3):c.*1700G>A rs76151738
NM_212550.4(BLOC1S3):c.*1746C>G rs74798348
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.*285T>A rs6509200
NM_212550.4(BLOC1S3):c.*426C>G rs142584236
NM_212550.4(BLOC1S3):c.*465A>T rs115683085
NM_212550.4(BLOC1S3):c.*946C>T rs111903160
NM_212550.4(BLOC1S3):c.-10+4C>G rs116105443
NM_212550.4(BLOC1S3):c.-57A>T rs116448245
NM_212550.4(BLOC1S3):c.-71G>A rs59215448
NM_212550.4(BLOC1S3):c.-73A>C rs8104024
NM_212550.5(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506

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.