ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome by Natera, Inc.

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ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
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_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933 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_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313 0.00026
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00019
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) rs199722122 0.00014
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_032383.5(HPS3):c.2018C>T (p.Ser673Leu) rs141023798 0.00007
NM_000195.5(HPS1):c.447C>T (p.Phe149=) rs564896584 0.00006
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) rs1055799878 0.00006
NM_032383.5(HPS3):c.1224G>A (p.Pro408=) rs752942876 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_032383.5(HPS3):c.905C>T (p.Ser302Leu) rs781327575 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_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259 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_032383.5(HPS3):c.1342T>C (p.Leu448=) rs778753554 0.00002
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) rs776346762 0.00002
NM_032383.5(HPS3):c.2667C>T (p.Ala889=) rs761310586 0.00002
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_032383.5(HPS3):c.701G>A (p.Arg234Gln) rs748904322 0.00002
NM_032383.5(HPS3):c.864C>T (p.His288=) rs146928432 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.1791C>T (p.Tyr597=) rs764612179 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_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) rs771822133 0.00001
NM_032383.5(HPS3):c.1951A>G (p.Met651Val) rs753269782 0.00001
NM_032383.5(HPS3):c.305C>A (p.Ser102Tyr) rs1189649144 0.00001
NM_032383.5(HPS3):c.687C>A (p.Asn229Lys) rs750964494 0.00001
NM_032383.5(HPS3):c.906G>A (p.Ser302=) rs1157223288 0.00001
NM_032383.5(HPS3):c.970G>A (p.Gly324Ser) rs370943042 0.00001
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.1646G>A (p.Arg549His) rs753635327
NM_000195.5(HPS1):c.1709G>C (p.Gly570Ala) rs1314012716
NM_000195.5(HPS1):c.1855A>G (p.Met619Val) rs1844649182
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.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
NM_032383.5(HPS3):c.1128A>G (p.Ala376=) rs1722738295
NM_032383.5(HPS3):c.199C>T (p.Leu67=) rs546531255
NM_032383.5(HPS3):c.2370C>G (p.Leu790=) rs746304657
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg) rs1724018415
NM_032383.5(HPS3):c.2932A>G (p.Met978Val) rs1206629874
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164

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