ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 5 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_181507.1(HPS5):c.*1023T>G rs886048069
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*182C>T rs886048074
NM_181507.1(HPS5):c.*299C>T rs12419588
NM_181507.1(HPS5):c.*300T>C rs12416821
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*443T>A rs74602396
NM_181507.1(HPS5):c.*464C>A rs1046611
NM_181507.1(HPS5):c.*475C>T rs1046615
NM_181507.1(HPS5):c.*655A>C rs886048073
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*702A>T rs79086536
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.*804C>T rs1046628
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.-142C>T rs4150528
NM_181507.1(HPS5):c.-197C>T rs886048085
NM_181507.1(HPS5):c.-217G>A rs761585857
NM_181507.1(HPS5):c.-250G>T rs4150529
NM_181507.1(HPS5):c.-251C>A rs4150530
NM_181507.1(HPS5):c.-263A>G rs886048086
NM_181507.1(HPS5):c.-64A>G rs886048084
NM_181507.1(HPS5):c.-91C>G rs4150527
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.1900G>A (p.Glu634Lys) rs143204089
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.2441-8T>C rs144196437
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.3045G>A (p.Met1015Ile) rs61755718
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.3229C>T (p.Arg1077Trp) rs75482179
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.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
NM_181507.2(HPS5):c.1165-15C>A rs7128146
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
NM_181507.2(HPS5):c.1635-4C>G rs79009787
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.1785-13C>T rs73430857
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.2537C>T (p.Pro846Leu) rs144875223
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.3058+9A>G rs2049129
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
NM_181508.1(HPS5):c.-249C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.