ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 3 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 89
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HGVS dbSNP
NM_000096.4(CP):c.*1007T>A
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*536G>C
NM_000096.4(CP):c.*572A>G rs561191589
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.*912C>G rs149920453
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*138A>T
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.*207C>T
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*95A>C
NM_032383.5(HPS3):c.*96T>A rs879086473
NM_032383.5(HPS3):c.*98A>T
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.-50C>T
NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys)
NM_032383.5(HPS3):c.10C>T (p.Leu4=) rs1343390851
NM_032383.5(HPS3):c.1125G>A (p.Gln375=) rs367816094
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.5(HPS3):c.1200G>C (p.Ala400=)
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu)
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.1509+5T>C
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536
NM_032383.5(HPS3):c.1785A>G (p.Val595=) rs150262900
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly)
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.5(HPS3):c.2078A>G (p.His693Arg)
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.5(HPS3):c.2887+8G>T
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)
NM_032383.5(HPS3):c.323T>C (p.Met108Thr)
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu)
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro)
NM_032383.5(HPS3):c.677A>G (p.His226Arg)
NM_032383.5(HPS3):c.694A>G (p.Ile232Val)
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp)
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.938A>G (p.His313Arg)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908

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