ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 3

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Total variants: 60
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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.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
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.*912C>G rs149920453
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*138A>T
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.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.132C>A (p.Phe44Leu)
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu) rs371551313
NM_032383.5(HPS3):c.1509+5T>C
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
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.196C>T (p.Arg66Cys) rs529838933
NM_032383.5(HPS3):c.2078A>G (p.His693Arg)
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987
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.2658C>T (p.Asp886=) rs141916243
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.938A>G (p.His313Arg)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)

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