ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome

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ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_000096.4(CP):c.*583T>C rs886058084
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_001349896.1(HPS4):c.-569C>T rs34019374
NM_003664.4(AP3B1):c.*69dup rs886060769
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.1317T>G (p.Thr439=) rs75248449
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_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_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[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.*1762G>A rs139974836
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
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.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_024747.5(HPS6):c.1498G>A (p.Gly500Arg) rs772897521
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.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_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2718-12A>G rs759757206
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.433_456dup (p.Arg145_Ala152dup) rs1599746194

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