ClinVar Miner

List of variants reported as pathogenic for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
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HGVS dbSNP
11p15.1 deletion
AP3B1, 1-BP INS, 1618G
AP3B1, IVS14DS, T-C, +6
GPR143, 14-BP DEL, NT816
GPR143, 17-BP DEL
GPR143, 2-BP INS, NT992
GPR143, 420G-A
HPS3, 89-BP INS
HPS4, 1-BP DEL, C, CODON 685
MYO5A, 47-BP INS, NT4634
MYO5A, F-EXON DEL
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NC_000015.9:g.(?_55516067)_(55516230_?)del
NC_000015.9:g.(?_55516067)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55527152_?)del
NC_000023.9:g.9688757-?_9693917+?del
NG_009846.1:g.103171_225796del
NM_000081.3(LYST):c.10127A>G (p.Asn3376Ser)
NM_000081.3(LYST):c.10395del (p.Gly3466fs)
NM_000081.3(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.3(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.3(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.3(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.3(LYST):c.1540C>T (p.Arg514Ter)
NM_000081.3(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.3(LYST):c.2413G>T (p.Glu805Ter)
NM_000081.3(LYST):c.2413del (p.Glu805fs)
NM_000081.3(LYST):c.2454del (p.Ala819fs)
NM_000081.3(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_000081.3(LYST):c.3073_3074del (p.Asn1025fs)
NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.3(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_000081.3(LYST):c.3434dup (p.His1145fs)
NM_000081.3(LYST):c.3601del (p.Ser1201fs)
NM_000081.3(LYST):c.3944dup (p.Val1316fs)
NM_000081.3(LYST):c.4052C>G (p.Ser1351Ter)
NM_000081.3(LYST):c.4274del (p.Leu1425fs)
NM_000081.3(LYST):c.4361C>A (p.Ala1454Asp)
NM_000081.3(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.3(LYST):c.5061T>A (p.Tyr1687Ter)
NM_000081.3(LYST):c.5317del (p.Arg1773fs)
NM_000081.3(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.3(LYST):c.5956C>T (p.Arg1986Ter)
NM_000081.3(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.3(LYST):c.6078C>A (p.Tyr2026Ter)
NM_000081.3(LYST):c.7060_7066del (p.Leu2354Metfs)
NM_000081.3(LYST):c.7555del (p.Tyr2519fs)
NM_000081.3(LYST):c.8428G>A (p.Glu2810Lys)
NM_000081.3(LYST):c.8583G>A (p.Trp2861Ter)
NM_000081.3(LYST):c.8802-2A>G
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.3(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)
NM_000081.3(LYST):c.925C>T (p.Arg309Ter)
NM_000081.3(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_000081.3(LYST):c.9893del (p.Phe3298fs)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1323dup (p.Gln442fs) rs281865085
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) rs281865073
NM_000195.5(HPS1):c.1691del (p.Lys564fs) rs281865087
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) rs281865089
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.288del (p.Asp97fs) rs281865074
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.418del (p.Ala140fs) rs281865078
NM_000195.5(HPS1):c.532dup (p.Gln178fs) rs281865079
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080
NM_000195.5(HPS1):c.932del (p.Ser311fs) rs281865091
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.974_975insC (p.Met325fs) rs281865092
NM_000259.3(MYO5A):c.2012+1G>T
NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter)
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
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.1001C>T (p.Ala334Val) rs121918168
NM_000275.3(OCA2):c.1044+1G>T rs185504549
NM_000275.3(OCA2):c.1182+1G>A rs371963034
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
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.1465A>G (p.Asn489Asp) rs121918170
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.1842+1G>T rs387906240
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.807+1G>T rs763219039
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
NM_000372.4(TYR):c.286dupA (p.Met96fs) rs61753190
NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) rs61754368
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316
NM_000372.5(TYR):c.1037-1G>A rs61754382
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter) rs104894130
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.5(ABCC6):c.450dup (p.Ala151fs) rs387906860
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
NM_001301365.1(LYST):c.11173G>A (p.Gly3725Arg)
NM_001301365.1(LYST):c.3622C>T (p.Gln1208Ter)
NM_001301365.1(LYST):c.5506C>T (p.Arg1836Ter)
NM_001301365.1(LYST):c.772T>C (p.Cys258Arg)
NM_001301365.1(LYST):c.7982C>G (p.Ser2661Ter)
NM_001301365.1(LYST):c.8281A>T (p.Arg2761Ter)
NM_001301365.1(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) rs587776952
NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
NM_003664.4(AP3B1):c.1474-7072_1650+921del
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.4(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.4(AP3B1):c.1839_1842delTAGA rs869312839
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620
NM_016180.5(SLC45A2):c.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_022081.5(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.5(HPS4):c.2084_2088AAGCA[3] (p.Lys699fs) rs281865100
NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.5(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.5(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.57dup (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.5(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)
NM_024747.5(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) rs281865112
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.5(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.5(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333
NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) rs281865107
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_032122.4(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2888-1612G>A rs281865096
NM_181507.1(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.1900del (p.Glu634fs) rs1131692146
NM_181507.1(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.1(HPS5):c.2748_2749AG[1] (p.Glu917fs) rs1131692151
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.1(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.3096_3098del (p.Leu1033del) rs753928208
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.1(HPS5):c.818_822del (p.Thr273fs) rs1131692147
NM_181507.1(HPS5):c.879dup (p.Lys294fs) rs281865101
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_212550.4(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115
NM_212550.4(BLOC1S3):c.448del (p.Gln150fs) rs281865116
RAB27A, 2-BP DEL, 51CT
RAB27A, 550C-T
RAB27A, 67.5-KB DEL
RAB27A, INV3DS, A-G, +3
RAB27A, IVS5, G-C, +1
Single allele
nsv1067844
nsv1197574

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