ClinVar Miner

List of variants in gene HPS1 reported as uncertain significance for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000195.4(HPS1):c.*1005A>G rs186229582
NM_000195.4(HPS1):c.*1085G>A rs563447772
NM_000195.4(HPS1):c.*1215_*1217delCCTinsTCC rs386746903
NM_000195.4(HPS1):c.*1235G>A rs886046584
NM_000195.4(HPS1):c.*1249G>A rs886046583
NM_000195.4(HPS1):c.*12C>T rs112544050
NM_000195.4(HPS1):c.*327G>A rs886046590
NM_000195.4(HPS1):c.*403G>A rs886046589
NM_000195.4(HPS1):c.*589G>A rs540367850
NM_000195.4(HPS1):c.*626C>T rs776700327
NM_000195.4(HPS1):c.*635T>C rs886046588
NM_000195.4(HPS1):c.*736C>T rs149708847
NM_000195.4(HPS1):c.*766G>T rs886046587
NM_000195.4(HPS1):c.*768A>G rs886046586
NM_000195.4(HPS1):c.*916G>A rs114082441
NM_000195.4(HPS1):c.*943C>T rs558066370
NM_000195.4(HPS1):c.*952T>G rs886046585
NM_000195.4(HPS1):c.-28G>A rs186783129
NM_000195.4(HPS1):c.-91T>A rs542654066
NM_000195.4(HPS1):c.122C>T (p.Pro41Leu) rs142934882
NM_000195.4(HPS1):c.1286G>A (p.Arg429His) rs201728087
NM_000195.4(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.4(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.4(HPS1):c.179C>T (p.Thr60Met) rs200004304
NM_000195.4(HPS1):c.1887C>T (p.Pro629=) rs142347792
NM_000195.4(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_000195.4(HPS1):c.1928G>A (p.Gly643Glu) rs148225281
NM_000195.4(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.4(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.4(HPS1):c.2058G>C (p.Gln686His) rs780183454
NM_000195.4(HPS1):c.2065C>T (p.Arg689Trp) rs3830014
NM_000195.4(HPS1):c.255+9A>G rs78927693
NM_000195.4(HPS1):c.256-4G>A rs372404024
NM_000195.4(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.4(HPS1):c.307G>A (p.Gly103Arg) rs771121322
NM_000195.4(HPS1):c.366G>A (p.Leu122=) rs147269809
NM_000195.4(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.4(HPS1):c.565C>T (p.Arg189Trp) rs757374077
NM_000195.4(HPS1):c.602G>A (p.Arg201Gln) rs746626404
NM_000195.4(HPS1):c.692C>T (p.Pro231Leu) rs773953162
NM_000195.4(HPS1):c.695C>T (p.Ala232Val) rs764420988
NM_000195.4(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.4(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000195.4(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687

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