ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 3 by Illumina Laboratory Services, Illumina

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00139
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_032383.5(HPS3):c.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00060
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933 0.00039
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) rs144990171 0.00039
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987 0.00033
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313 0.00026
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802 0.00025
NM_032383.5(HPS3):c.694A>G (p.Ile232Val) rs199722122 0.00014
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu) rs779631326 0.00013
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00010
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu) rs577273287 0.00010
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly) rs147557809 0.00009
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu) rs140810728 0.00009
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_032383.5(HPS3):c.-50C>T rs750659280 0.00005
NM_032383.5(HPS3):c.677A>G (p.His226Arg) rs188661079 0.00005
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro) rs752370839 0.00004
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp) rs371986139 0.00004
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483 0.00003
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259 0.00003
NM_032383.5(HPS3):c.1125G>A (p.Gln375=) rs367816094 0.00002
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836 0.00002
NM_032383.5(HPS3):c.1509+5T>C rs200117898 0.00002
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_032383.5(HPS3):c.*239G>A rs886058083 0.00001
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys) rs771822133 0.00001
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078 0.00001
NM_032383.5(HPS3):c.1785A>G (p.Val595=) rs150262900 0.00001
NM_032383.5(HPS3):c.2078A>G (p.His693Arg) rs759772353 0.00001
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837 0.00001
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018 0.00001
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416 0.00001
NM_032383.5(HPS3):c.938A>G (p.His313Arg) rs910569690 0.00001
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
NM_032383.5(HPS3):c.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.10C>T (p.Leu4=) rs1343390851
NM_032383.5(HPS3):c.1200G>C (p.Ala400=) rs377368442
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys) rs143804526
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.323T>C (p.Met108Thr) rs1722344814
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser) rs1722360673
NM_032383.5(HPS3):c.963C>T (p.Tyr321=) rs1722440534

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