ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_001271769.2(AP3B1):c.*552_*555TAAA[1] rs886060767
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_001349896.1(HPS4):c.-569C>T rs34019374
NM_001349896.1(HPS4):c.-571G>T rs968425
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.*69dup rs886060769
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.388C>T (p.Leu130=) rs138774723
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.5(AP3B1):c.1969-10G>A rs77009095
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_007216.4(HPS5):c.*1003_*1004del rs886048070
NM_007216.4(HPS5):c.1879_1881ACA[1] (p.Thr628del) rs886048077
NM_007216.4(HPS5):c.483-14del rs886048082
NM_012388.3(BLOC1S6):c.*274_*275TG[1] rs766946085
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[4] rs376870196
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_022081.6(HPS4):c.*1024_*1028del rs886057313
NM_022081.6(HPS4):c.*1191TG[16] rs134978
NM_022081.6(HPS4):c.*1191TG[17] rs134978
NM_022081.6(HPS4):c.*1191TG[20] rs134978
NM_022081.6(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.6(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.6(HPS4):c.*1223_*1238del rs886057303
NM_022081.6(HPS4):c.*1225T>C rs886057311
NM_022081.6(HPS4):c.*1227_*1236del rs755364858
NM_022081.6(HPS4):c.*1229C>T rs6147576
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.*1229CG[5] rs10573454
NM_022081.6(HPS4):c.*1229CG[6] rs10573454
NM_022081.6(HPS4):c.*1229CG[7] rs10573454
NM_022081.6(HPS4):c.*1229CG[8] rs10573454
NM_022081.6(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.6(HPS4):c.*1231C>T rs56271395
NM_022081.6(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.6(HPS4):c.*1589C>A rs117397456
NM_022081.6(HPS4):c.*1613C>A rs3752589
NM_022081.6(HPS4):c.*1762G>A rs139974836
NM_022081.6(HPS4):c.-253C>T rs3747134
NM_022081.6(HPS4):c.-296T>C rs5761557
NM_022081.6(HPS4):c.-530A>G rs3747137
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704
NM_022081.6(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.6(HPS4):c.373C>G (p.Leu125Val) rs180729981
NM_022081.6(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998
NM_022081.6(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_022081.6(HPS4):c.765C>T (p.Ala255=) rs886057318
NM_032122.4(DTNBP1):c.*151_*152dup rs555440397
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*96_*97TC[3] rs1553756780
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97_*98CA[16] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[17] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[20] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[21] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[22] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[23] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.884+25del rs10693502
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_183040.2(DTNBP1):c.489-12_489-8del rs199770715
NM_183040.2(DTNBP1):c.489-21dup rs199770715
NM_183040.2(DTNBP1):c.489-8del rs199770715
NM_183040.2(DTNBP1):c.668-14del rs886061225
NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751

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.