ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome

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ClinVar version:
Total variants: 145
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HGVS dbSNP
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
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.1096C>A (p.Pro366Thr) rs138771756
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1857+2T>C rs374689398
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
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.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1879_1881ACA[1] (p.Thr628del) rs886048077
NM_007216.4(HPS5):c.201del (p.Gln67fs) rs755827664
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
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_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
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.1132C>T (p.Gln378Ter) rs369053765
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_024747.5(HPS6):c.1498G>A (p.Gly500Arg) rs772897521
NM_024747.5(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.5(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.5(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.5(HPS6):c.706_707delTC rs756471925
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu) rs1478574193
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364
NM_032122.4(DTNBP1):c.*151_*152dup rs555440397
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
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.1163+1G>A rs201227603
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
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_152841.2(HPS4):c.261+5G>A rs1602079277
NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter) rs779921624
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_201280.3(BLOC1S5):c.345del (p.Val116fs)
NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194

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