ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 3 by Baylor Genetics

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200 0.00003
NM_032383.5(HPS3):c.1588C>T (p.Arg530Ter) rs755841847 0.00003
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 0.00002
NM_032383.5(HPS3):c.1861G>T (p.Glu621Ter) rs1488175163 0.00001
NM_032383.5(HPS3):c.2292+1G>A rs755724489 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.2796+2T>C rs1476066527 0.00001
NM_032383.5(HPS3):c.1055del (p.Gly352fs)
NM_032383.5(HPS3):c.1058_1059del (p.Tyr353fs)
NM_032383.5(HPS3):c.1102C>T (p.Gln368Ter)
NM_032383.5(HPS3):c.1120C>T (p.Gln374Ter)
NM_032383.5(HPS3):c.1123C>T (p.Gln375Ter)
NM_032383.5(HPS3):c.1154del (p.Val385fs)
NM_032383.5(HPS3):c.1175del (p.Gln392fs)
NM_032383.5(HPS3):c.1179T>A (p.Cys393Ter)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1231dup (p.Asp411fs)
NM_032383.5(HPS3):c.1246-2A>T rs1282659169
NM_032383.5(HPS3):c.1246_1247insT (p.Ala416fs)
NM_032383.5(HPS3):c.1246dup
NM_032383.5(HPS3):c.1249del (p.Cys417fs)
NM_032383.5(HPS3):c.1385C>A (p.Ser462Ter) rs1330496818
NM_032383.5(HPS3):c.145C>T (p.Gln49Ter)
NM_032383.5(HPS3):c.148G>T (p.Glu50Ter)
NM_032383.5(HPS3):c.1500C>A (p.Tyr500Ter)
NM_032383.5(HPS3):c.1555_1595dup (p.Ala532_Leu533insPheThrPheSerValArgLeuIleCysTer) rs756611897
NM_032383.5(HPS3):c.157del (p.Gln53fs)
NM_032383.5(HPS3):c.1660del (p.Ser554fs)
NM_032383.5(HPS3):c.1678del (p.Asp560fs)
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_032383.5(HPS3):c.1686C>A (p.Tyr562Ter) rs1292407171
NM_032383.5(HPS3):c.1824_1825del (p.Phe608fs)
NM_032383.5(HPS3):c.1842_1843del (p.Leu614_Tyr615insTer) rs1363245838
NM_032383.5(HPS3):c.1868_1872del (p.Asn623fs) rs749632423
NM_032383.5(HPS3):c.1873-1G>A
NM_032383.5(HPS3):c.207C>A (p.Tyr69Ter)
NM_032383.5(HPS3):c.2090_2094del (p.Met697fs) rs1032570128
NM_032383.5(HPS3):c.2106+1G>T
NM_032383.5(HPS3):c.2134G>T (p.Glu712Ter)
NM_032383.5(HPS3):c.2155C>T (p.Gln719Ter)
NM_032383.5(HPS3):c.217+2T>G rs1286892626
NM_032383.5(HPS3):c.2182G>T (p.Glu728Ter)
NM_032383.5(HPS3):c.2194dup (p.His732fs)
NM_032383.5(HPS3):c.219del (p.Asp74fs)
NM_032383.5(HPS3):c.2289del (p.Phe763fs)
NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs) rs868868714
NM_032383.5(HPS3):c.2372_2373del (p.Pro791fs)
NM_032383.5(HPS3):c.2423G>A (p.Trp808Ter)
NM_032383.5(HPS3):c.2424del (p.Ile807_Trp808insTer)
NM_032383.5(HPS3):c.2440C>T (p.Gln814Ter)
NM_032383.5(HPS3):c.2471C>A (p.Ser824Ter) rs373037058
NM_032383.5(HPS3):c.249_252del (p.Asn83fs) rs770108122
NM_032383.5(HPS3):c.2507T>G (p.Leu836Ter)
NM_032383.5(HPS3):c.2587C>T (p.Gln863Ter) rs2108173648
NM_032383.5(HPS3):c.2650del (p.Ser884fs)
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2766del (p.Pro921_Tyr922insTer)
NM_032383.5(HPS3):c.2788G>T (p.Glu930Ter)
NM_032383.5(HPS3):c.2796+1del rs2108184819
NM_032383.5(HPS3):c.2808G>A (p.Trp936Ter)
NM_032383.5(HPS3):c.2813_2814del (p.Lys938fs)
NM_032383.5(HPS3):c.2871C>A (p.Tyr957Ter)
NM_032383.5(HPS3):c.2887+1G>A
NM_032383.5(HPS3):c.324dup (p.Ile109fs)
NM_032383.5(HPS3):c.371del (p.Gln124fs)
NM_032383.5(HPS3):c.403del (p.Ala135fs) rs748883997
NM_032383.5(HPS3):c.496_497dup (p.Asn167fs)
NM_032383.5(HPS3):c.502G>T (p.Glu168Ter)
NM_032383.5(HPS3):c.589dup (p.Tyr197fs)
NM_032383.5(HPS3):c.658dup (p.Arg220fs)
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_032383.5(HPS3):c.691C>T (p.Arg231Ter)
NM_032383.5(HPS3):c.706G>T (p.Glu236Ter)
NM_032383.5(HPS3):c.731C>A (p.Ser244Ter)
NM_032383.5(HPS3):c.745_746del (p.Ser248_Asp249insTer)
NM_032383.5(HPS3):c.823G>T (p.Glu275Ter)
NM_032383.5(HPS3):c.84_109del (p.Arg30fs)
NM_032383.5(HPS3):c.869_870del (p.Gln290fs)
NM_032383.5(HPS3):c.87del (p.Arg30fs)
NM_032383.5(HPS3):c.904dup (p.Ser302fs)
NM_032383.5(HPS3):c.970+1G>A
NM_032383.5(HPS3):c.995dup (p.Asn332fs)

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