ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP
11p15.1 deletion
AP3B1, 1-BP INS, 1618G
AP3B1, IVS14DS, T-C, +6
HPS3, 89-BP INS
HPS4, 1-BP DEL, C, CODON 685
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1323dup (p.Gln442fs) rs281865085
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) rs281865073
NM_000195.5(HPS1):c.1691del (p.Lys564fs) rs281865087
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) rs281865089
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.288del (p.Asp97fs) rs281865074
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.418del (p.Ala140fs) rs281865078
NM_000195.5(HPS1):c.532dup (p.Gln178fs) rs281865079
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080
NM_000195.5(HPS1):c.932del (p.Ser311fs) rs281865091
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.974_975insC (p.Met325fs) rs281865092
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
NM_003664.4(AP3B1):c.1474-7072_1650+921del
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.4(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.4(AP3B1):c.1839_1842delTAGA rs869312839
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1558del (p.Glu520fs) rs1131692146
NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.201del (p.Gln67fs)
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) rs753928208
NM_007216.4(HPS5):c.476_480del (p.Thr159fs) rs1131692147
NM_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_022081.5(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.5(HPS4):c.2084_2088AAGCA[3] (p.Lys699fs) rs281865100
NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.5(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.5(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.57dup (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.5(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_024747.5(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) rs281865112
NM_024747.5(HPS6):c.155del (p.Val52fs)
NM_024747.5(HPS6):c.1624del (p.Asp542fs)
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.5(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.5(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333
NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) rs281865107
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032122.4(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_032122.4(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945
NM_032383.5(HPS3):c.0_217+692del
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
NM_032383.5(HPS3):c.1691+2T>G rs281865093
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2589+1G>C rs281865095
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)
NM_032383.5(HPS3):c.2888-1612G>A rs281865096
NM_181507.1(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.2748_2749AG[1] (p.Glu917fs) rs1131692151
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_212550.4(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115
NM_212550.4(BLOC1S3):c.448del (p.Gln150fs) rs281865116
nsv1067844

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