ClinVar Miner

List of variants in gene HPS5 studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP
11p15.1 deletion
NM_181507.1(HPS5):c.*1003_*1004delAA rs886048070
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.107del (p.Lys36Serfs) rs1554948134
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1423delC (p.Leu475Serfs) rs766602179
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.1501G>A (p.Gly501Arg) rs143784823
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.1635-4C>G rs79009787
NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.1900delG (p.Glu634Serfs) rs1131692146
NM_181507.1(HPS5):c.2025_2028delAGTT (p.Val676Metfs) rs281865103
NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2224_2226delACA (p.Thr742del) rs886048077
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
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.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.2562-14G>C rs199999276
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2624delT (p.Leu875Cysfs) rs281865105
NM_181507.1(HPS5):c.2750_2751delAG (p.Glu917Valfs) rs1131692151
NM_181507.1(HPS5):c.2837+15delC rs886048076
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2928_2929dupGA (p.Thr977Argfs) rs397507169
NM_181507.1(HPS5):c.2979_2982delTTTG (p.Cys993Trpfs) rs886041723
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.3058+9A>G rs2049129
NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) rs369368194
NM_181507.1(HPS5):c.3096_3098delCCT (p.Leu1033del) rs753928208
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.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.1(HPS5):c.818_822delCTCTC (p.Thr273Lysfs) rs1131692147
NM_181507.1(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_181507.1(HPS5):c.825-14delT rs886048082
NM_181507.1(HPS5):c.879dupC (p.Lys294Glnfs) rs281865101
NM_181507.1(HPS5):c.986-5C>T rs201439984

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