ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
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.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1857+2T>C rs374689398
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.399-14G>A rs1260083432
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_024747.5(HPS6):c.1649del (p.Gly550fs) rs1590263820
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.19_20delCT rs1590262288
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.706_707delTC rs756471925
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu) rs1478574193
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser) rs756325364
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter) rs1553750097
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile) rs780183200
NM_032383.5(HPS3):c.1682_1683del (p.Cys561fs) rs778152054
NM_032383.5(HPS3):c.1798C>T (p.Gln600Ter) rs1576687466
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039
NM_032383.5(HPS3):c.2463dup (p.Arg822fs) rs1576695913
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.89_114del (p.Arg30fs) rs1553750083
NM_152841.2(HPS4):c.261+5G>A rs1602079277
NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter) rs779921624

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