ClinVar Miner

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

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870 0.00049
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792 0.00036
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000195.5(HPS1):c.1448G>A (p.Arg483Gln) rs199996900 0.00009
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) rs528827909 0.00009
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014 0.00009
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.447C>T (p.Phe149=) rs564896584 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) rs1055799878 0.00006
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) rs538482143 0.00005
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) rs751349303 0.00004
NM_000195.5(HPS1):c.9C>T (p.Cys3=) rs750909242 0.00004
NM_000195.5(HPS1):c.1398-8G>A rs375009475 0.00003
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) rs367656088 0.00003
NM_000195.5(HPS1):c.387T>C (p.Leu129=) rs777005528 0.00003
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) rs772192145 0.00003
NM_000195.5(HPS1):c.924C>T (p.Gly308=) rs747955942 0.00003
NM_000195.5(HPS1):c.960G>A (p.Gly320=) rs894529827 0.00003
NM_000195.5(HPS1):c.1667C>T (p.Ala556Val) rs200239872 0.00002
NM_000195.5(HPS1):c.303C>T (p.Ser101=) rs769932435 0.00002
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) rs979661361 0.00002
NM_000195.5(HPS1):c.1285C>T (p.Arg429Cys) rs770233681 0.00001
NM_000195.5(HPS1):c.1431G>A (p.Gln477=) rs747509165 0.00001
NM_000195.5(HPS1):c.1645C>T (p.Arg549Cys) rs747984964 0.00001
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) rs139951191 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 0.00001
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) rs121908385 0.00001
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) rs759163020 0.00001
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) rs770719820 0.00001
NM_000195.5(HPS1):c.472C>T (p.Arg158Cys) rs727505003 0.00001
NM_000195.5(HPS1):c.741C>T (p.Ser247=) rs772319786 0.00001
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) rs745797275 0.00001
NM_000195.5(HPS1):c.819C>T (p.Ala273=) rs775779922 0.00001
NM_000195.5(HPS1):c.973A>G (p.Met325Val) rs1406192587 0.00001
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.1107G>A (p.Met369Ile) rs374952573
NM_000195.5(HPS1):c.1156-8A>C rs1845516768
NM_000195.5(HPS1):c.159G>T (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1646G>A (p.Arg549His) rs753635327
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) rs1314012716
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1855A>G (p.Met619Val) rs1844649182
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) rs1467653379
NM_000195.5(HPS1):c.268C>G (p.Leu90Val) rs1847174036
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) rs771121322
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
NM_000195.5(HPS1):c.614A>G (p.Glu205Gly) rs565505287
NM_000195.5(HPS1):c.723T>A (p.Val241=) rs1846304734
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) rs1846147269

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