ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP
NM_000096.3(CP):c.*769G>A rs1053669
NM_000096.3(CP):c.*828dupA rs35907111
NM_000195.4(HPS1):c.*1167G>A rs1061437
NM_000195.4(HPS1):c.*1215C>T rs3830024
NM_000195.4(HPS1):c.*1217T>C rs3830025
NM_000195.4(HPS1):c.*272C>T rs1061115
NM_000195.4(HPS1):c.*324T>C rs1061123
NM_000195.4(HPS1):c.*452G>A rs701801
NM_000195.4(HPS1):c.*706C>G rs3830020
NM_000195.4(HPS1):c.*955A>G rs1737
NM_000195.4(HPS1):c.*982T>C rs1739
NM_000195.4(HPS1):c.-51C>A rs1804689
NM_000195.4(HPS1):c.1397+7G>C rs2296432
NM_000195.4(HPS1):c.1397+8G>T rs2296433
NM_000195.4(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.4(HPS1):c.1599-15A>G rs2296435
NM_000195.4(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.4(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.4(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000195.4(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.4(AP3B1):c.1040+9T>A rs201876461
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
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.2112C>T (p.Gly704=) rs35976098
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2409_2411delGAA (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2730T>C (p.Thr910=) rs143527588
NM_003664.4(AP3B1):c.280-6dupT rs5868908
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.3023_3025delCTG (p.Ala1008del) rs111935323
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.687A>G (p.Leu229=) rs35496909
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.*2834_*2837dup rs376870196
NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_022081.5(HPS4):c.*1237_*1246delCGCGCGCGCG rs10573454
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_022081.5(HPS4):c.1327C>G (p.Leu443Val) rs2014410
NM_022081.5(HPS4):c.1654G>A (p.Val552Met) rs5752330
NM_022081.5(HPS4):c.1816C>T (p.His606Tyr) rs1894706
NM_022081.5(HPS4):c.1875G>T (p.Gln625His) rs1894704
NM_022081.5(HPS4):c.686A>G (p.Glu229Gly) rs713998
NM_024747.5(HPS6):c.*178T>G rs3816
NM_032122.4(DTNBP1):c.-18A>G rs11558324
NM_032122.4(DTNBP1):c.356-7C>T rs3829893
NM_032383.4(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.4(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.4(HPS3):c.2887+19dup rs397710976
NM_032383.4(HPS3):c.970+7A>G rs114029765
NM_032383.4(HPS3):c.981A>G (p.Thr327=) rs11718908
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

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.