ClinVar Miner

List of variants reported as benign for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP
NM_000081.4(LYST):c.7229+50CTTTT[7]
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*828dup rs35907111
NM_000195.5(HPS1):c.*1167G>A rs1061437
NM_000195.5(HPS1):c.*1215C>T rs3830024
NM_000195.5(HPS1):c.*1217T>C rs3830025
NM_000195.5(HPS1):c.*272C>T rs1061115
NM_000195.5(HPS1):c.*324T>C rs1061123
NM_000195.5(HPS1):c.*452G>A rs701801
NM_000195.5(HPS1):c.*706C>G rs3830020
NM_000195.5(HPS1):c.*955A>G rs1737
NM_000195.5(HPS1):c.*982T>C rs1739
NM_000195.5(HPS1):c.-51C>A rs1804689
NM_000195.5(HPS1):c.1397+7G>C rs2296432
NM_000195.5(HPS1):c.1397+8G>T rs2296433
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1599-15A>G rs2296435
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000259.3(MYO5A):c.1543-84del
NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.3(OCA2):c.1183-4A>G rs10852218
NM_000275.3(OCA2):c.1365-15C>T rs12910433
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307
NM_000372.4(TYR):c.-199C>A rs1799989
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000550.3(TYRP1):c.*123C>A rs683
NM_000550.3(TYRP1):c.*294_*297AAGT[1] rs71329877
NM_000550.3(TYRP1):c.*404A>T rs2762464
NM_000550.3(TYRP1):c.*468_*471ATTA[1] rs71329878
NM_000550.3(TYRP1):c.*853A>C rs910
NM_000550.3(TYRP1):c.*908T>C rs1063380
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073
NM_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.1251A>G (p.Gln417=) rs1063128
NM_001301365.1(LYST):c.153A>C (p.Gly51=) rs11464
NM_001301365.1(LYST):c.1683A>G (p.Leu561=) rs3820553
NM_001301365.1(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_001301365.1(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_001301365.1(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_001301365.1(LYST):c.4956A>G (p.Leu1652=) rs6696123
NM_001301365.1(LYST):c.5291G>C (p.Gly1764Ala) rs35413645
NM_001301365.1(LYST):c.5373G>A (p.Lys1791=) rs2273584
NM_001301365.1(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_001301365.1(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_001301365.1(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_001301365.1(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_001301365.1(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_001301365.1(LYST):c.9C>T (p.Thr3=) rs33998267
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.4(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.4(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_012388.3(BLOC1S6):c.*1124G>T rs111954968
NM_012388.3(BLOC1S6):c.*171A>T rs60561729
NM_012388.3(BLOC1S6):c.*2209T>C rs7183382
NM_012388.3(BLOC1S6):c.*2404C>T rs13376
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_022081.5(HPS4):c.*1613C>A rs3752589
NM_022081.5(HPS4):c.-253C>T rs3747134
NM_022081.5(HPS4):c.-296T>C rs5761557
NM_022081.5(HPS4):c.-662G>T rs968425
NM_024747.5(HPS6):c.*178T>G rs3816
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908
NM_152841.2(HPS4):c.*1229_*1230CG[4] rs10573454
NM_152841.2(HPS4):c.1312C>G (p.Leu438Val) rs2014410
NM_152841.2(HPS4):c.1639G>A (p.Val547Met) rs5752330
NM_152841.2(HPS4):c.1801C>T (p.His601Tyr) rs1894706
NM_152841.2(HPS4):c.1860G>T (p.Gln620His) rs1894704
NM_152841.2(HPS4):c.671A>G (p.Glu224Gly) rs713998
NM_181507.1(HPS5):c.*299C>T rs12419588
NM_181507.1(HPS5):c.*300T>C rs12416821
NM_181507.1(HPS5):c.*464C>A rs1046611
NM_181507.1(HPS5):c.*475C>T rs1046615
NM_181507.1(HPS5):c.3058+9A>G rs2049129
NM_181507.1(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_183040.2(DTNBP1):c.-18A>G rs11558324
NM_183040.2(DTNBP1):c.356-7C>T rs3829893
NM_183235.2(RAB27A):c.*2554C>T rs28564077
NM_183235.3(RAB27A):c.*1418T>A rs1061874
NM_183235.3(RAB27A):c.*1427G>A rs1061875
NM_183235.3(RAB27A):c.*14C>T rs1050931
NM_183235.3(RAB27A):c.*1594A>G rs1061821
NM_183235.3(RAB27A):c.*1647T>G rs1061822
NM_183235.3(RAB27A):c.*1662A>T rs1061823
NM_183235.3(RAB27A):c.*1742A>G rs1061824
NM_183235.3(RAB27A):c.*1926T>A rs8028801
NM_183235.3(RAB27A):c.*1931T>C rs6493770
NM_183235.3(RAB27A):c.*2007G>A rs6493769
NM_183235.3(RAB27A):c.*852C>T rs3179664
NM_183235.3(RAB27A):c.*936C>A rs1061870
NM_183235.3(RAB27A):c.*949A>G rs1061873
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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.