ClinVar Miner

List of variants studied for albinism by OMIM

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP
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_000023.9:g.9688757-?_9693917+?del
NG_009846.1:g.103171_225796del
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
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_000259.3(MYO5A):c.2332C>T (p.Arg778Ter)
NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219
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_807del (p.Ser216Cysfs)
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
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.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.2228C>T (p.Pro743Leu) rs121918167
NM_000372.4(TYR):c.-199C>A rs1799989
NM_000372.4(TYR):c.286dupA (p.Met96fs) rs61753190
NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) rs61754368
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.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.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.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.533G>A (p.Trp178Ter) rs61754360
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
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.707G>A (p.Trp236Ter) rs61754367
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
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.497C>G (p.Ser166Ter) rs104894130
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
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_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.1975G>T (p.Glu659Ter) rs121908907
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.1082T>C (p.Leu361Pro) rs121912619
NM_016180.5(SLC45A2):c.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620
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.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.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_024747.5(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) rs281865112
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_181507.1(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.1(HPS5):c.2026_2029del (p.Val676fs) rs281865103
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.2624del (p.Leu875fs) rs281865105
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.1(HPS5):c.879dup (p.Lys294fs) rs281865101
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.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_205850.3(SLC24A5):c.331= (p.Thr111=) rs1426654
NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs) rs886037642
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
nsv1197574

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