ClinVar Miner

List of variants in gene HPS5 reported as uncertain significance for Hermansky-Pudlak syndrome 5

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Gene type:
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Total variants: 71
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HGVS dbSNP
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_181507.1(HPS5):c.*1023T>G rs886048069
NM_181507.1(HPS5):c.*182C>T rs886048074
NM_181507.1(HPS5):c.*655A>C rs886048073
NM_181507.1(HPS5):c.*812A>C rs755078355
NM_181507.1(HPS5):c.*956T>G rs886048072
NM_181507.1(HPS5):c.*960T>A rs886048071
NM_181507.1(HPS5):c.-197C>T rs886048085
NM_181507.1(HPS5):c.-217G>A rs761585857
NM_181507.1(HPS5):c.-263A>G rs886048086
NM_181507.1(HPS5):c.-64A>G rs886048084
NM_181507.1(HPS5):c.1075C>T (p.Arg359Cys) rs143073506
NM_181507.1(HPS5):c.1076G>A (p.Arg359His) rs774619545
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1475T>A (p.Leu492Gln) rs190883305
NM_181507.1(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.1(HPS5):c.1496C>T (p.Ser499Leu) rs756408229
NM_181507.1(HPS5):c.1510+3G>A rs886048080
NM_181507.1(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.1(HPS5):c.1609G>T (p.Val537Leu) rs149677540
NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.241G>A (p.Ala81Thr) rs147053126
NM_181507.1(HPS5):c.2461G>T (p.Val821Leu) rs373228021
NM_181507.1(HPS5):c.2521G>T (p.Val841Phe) rs142090060
NM_181507.1(HPS5):c.2562-14G>C rs199999276
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2866T>C (p.Tyr956His) rs147430035
NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) rs369368194
NM_181507.1(HPS5):c.309A>G (p.Glu103=) rs77722090
NM_181507.1(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075
NM_181507.1(HPS5):c.3259C>T (p.Leu1087=) rs868410563
NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_181507.2(HPS5):c.*1201A>G
NM_181507.2(HPS5):c.*157G>A
NM_181507.2(HPS5):c.*276T>G
NM_181507.2(HPS5):c.*469A>G
NM_181507.2(HPS5):c.*839T>C
NM_181507.2(HPS5):c.*95C>A
NM_181507.2(HPS5):c.-195A>G
NM_181507.2(HPS5):c.-75A>G
NM_181507.2(HPS5):c.-82T>G
NM_181507.2(HPS5):c.1012A>C (p.Asn338His)
NM_181507.2(HPS5):c.1032C>T (p.His344=)
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)
NM_181507.2(HPS5):c.1692T>C (p.Pro564=)
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)
NM_181507.2(HPS5):c.1803T>C (p.Thr601=)
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)
NM_181507.2(HPS5):c.2721A>G (p.Ser907=) rs139795577
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro) rs1590156657
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
NM_181508.1(HPS5):c.-249C>T

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