ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome with pulmonary fibrosis

Included ClinVar conditions (2):
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Total variants: 48
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HGVS dbSNP
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.1472C>G (p.Pro491Arg) rs2296434
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.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
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.54A>G (p.Thr18=) rs531947687
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
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_022081.5(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.5(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
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.250A>G (p.Ile84Val) rs149830675
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.710C>T (p.Ala237Val) rs77597168
NM_022081.5(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_032122.4(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866

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