ClinVar Miner

List of variants in gene HPS1 studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000195.5(HPS1):c.*1005A>G rs186229582
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1167G>A rs1061437
NM_000195.5(HPS1):c.*1215C>T rs3830024
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.*1217T>C rs3830025
NM_000195.5(HPS1):c.*1235G>A rs886046584
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.*1326C>A rs146022441
NM_000195.5(HPS1):c.*272C>T rs1061115
NM_000195.5(HPS1):c.*324T>C rs1061123
NM_000195.5(HPS1):c.*327G>A rs886046590
NM_000195.5(HPS1):c.*403G>A rs886046589
NM_000195.5(HPS1):c.*452G>A rs701801
NM_000195.5(HPS1):c.*460C>T rs114794063
NM_000195.5(HPS1):c.*473G>A rs3830019
NM_000195.5(HPS1):c.*589G>A rs540367850
NM_000195.5(HPS1):c.*626C>T rs776700327
NM_000195.5(HPS1):c.*635T>C rs886046588
NM_000195.5(HPS1):c.*694C>T rs7075480
NM_000195.5(HPS1):c.*706C>G rs3830020
NM_000195.5(HPS1):c.*736C>T rs149708847
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*916G>A rs114082441
NM_000195.5(HPS1):c.*943C>T rs558066370
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.*955A>G rs1737
NM_000195.5(HPS1):c.*982T>C rs1739
NM_000195.5(HPS1):c.-105-9C>T rs2296429
NM_000195.5(HPS1):c.-28G>A rs186783129
NM_000195.5(HPS1):c.-51C>A rs1804689
NM_000195.5(HPS1):c.-91T>A rs542654066
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087
NM_000195.5(HPS1):c.1323dup (p.Gln442fs) rs281865085
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1397+7G>C rs2296432
NM_000195.5(HPS1):c.1397+8G>T rs2296433
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.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1599-15A>G rs2296435
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) rs281865073
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
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.1767G>A (p.Ala589=) rs79218830
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281
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.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) rs780183454
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.255+9A>G rs78927693
NM_000195.5(HPS1):c.256-4G>A rs372404024
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.5(HPS1):c.288del (p.Asp97fs) rs281865074
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809
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.557C>T (p.Ala186Val) rs1801286
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.932del (p.Ser311fs) rs281865091
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
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_000195.5(HPS1):c.987+13T>C rs12571249

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