ClinVar Miner

List of variants reported as benign for albinism by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP
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.1599-15A>G rs2296435
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404
NM_000275.3(OCA2):c.1183-4A>G rs10852218
NM_000275.3(OCA2):c.1365-15C>T rs12910433
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_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_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.4956A>G (p.Leu1652=) rs6696123
NM_001301365.1(LYST):c.5373G>A (p.Lys1791=) rs2273584
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.280-14dup rs5868908
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.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

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