ClinVar Miner

List of variants in gene HPS4 studied for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
HPS4, 1-BP DEL, C, CODON 685
NM_022081.5(HPS4):c.*1024_*1028delATTGT rs886057313
NM_022081.5(HPS4):c.*1120C>T rs886057312
NM_022081.5(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.5(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.5(HPS4):c.*1223_*1228delTGTGTG rs134978
NM_022081.5(HPS4):c.*1223_*1238delTGTGTGCGCGCGCGCG rs886057303
NM_022081.5(HPS4):c.*1225T>C rs886057311
NM_022081.5(HPS4):c.*1225_*1228delTGTG rs134978
NM_022081.5(HPS4):c.*1227T>C rs7293228
NM_022081.5(HPS4):c.*1227_*1228dupTG rs134978
NM_022081.5(HPS4):c.*1227_*1236delTGCGCGCGCG rs755364858
NM_022081.5(HPS4):c.*1229C>T rs6147576
NM_022081.5(HPS4):c.*1229_*1237delCGCGCGCGCinsTGT rs886057304
NM_022081.5(HPS4):c.*1229_*1237delCGCGCGCGCinsTGTGT rs886057304
NM_022081.5(HPS4):c.*1231C>T rs56271395
NM_022081.5(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.5(HPS4):c.*1237C>T rs886057305
NM_022081.5(HPS4):c.*1237_*1246delCGCGCGCGCG rs10573454
NM_022081.5(HPS4):c.*1239_*1246delCGCGCGCG rs10573454
NM_022081.5(HPS4):c.*1241_*1246delCGCGCG rs10573454
NM_022081.5(HPS4):c.*1243_*1246delCGCG rs10573454
NM_022081.5(HPS4):c.*1245_*1246delCG rs10573454
NM_022081.5(HPS4):c.*1250C>T rs7291576
NM_022081.5(HPS4):c.*1253G>A rs534586940
NM_022081.5(HPS4):c.*1256C>T rs886057299
NM_022081.5(HPS4):c.*1359A>T rs886057298
NM_022081.5(HPS4):c.*1576C>T rs886057297
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.*1594G>C rs886057296
NM_022081.5(HPS4):c.*1613C>A rs3752589
NM_022081.5(HPS4):c.*1687A>G rs3752588
NM_022081.5(HPS4):c.*1752C>G rs886057295
NM_022081.5(HPS4):c.*1762G>A rs139974836
NM_022081.5(HPS4):c.*197G>T rs550753111
NM_022081.5(HPS4):c.*369C>T rs886057316
NM_022081.5(HPS4):c.*391G>A rs886057315
NM_022081.5(HPS4):c.*515G>C rs886057314
NM_022081.5(HPS4):c.*751G>A rs190837977
NM_022081.5(HPS4):c.-116C>T rs886057321
NM_022081.5(HPS4):c.-185A>G rs188205202
NM_022081.5(HPS4):c.-253C>T rs3747134
NM_022081.5(HPS4):c.-296T>C rs5761557
NM_022081.5(HPS4):c.-395A>C rs147631281
NM_022081.5(HPS4):c.-42A>G rs369803062
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_022081.5(HPS4):c.-523G>T rs886057323
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_022081.5(HPS4):c.-554C>T rs115916720
NM_022081.5(HPS4):c.-585T>G rs187762406
NM_022081.5(HPS4):c.-622G>C rs886057324
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.5(HPS4):c.-660C>T rs34019374
NM_022081.5(HPS4):c.-661G>T rs753668169
NM_022081.5(HPS4):c.-662G>T rs968425
NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.5(HPS4):c.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) rs116769827
NM_022081.5(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.5(HPS4):c.1192A>C (p.Arg398=) rs375655372
NM_022081.5(HPS4):c.1232G>A (p.Ser411Asn) rs201043011
NM_022081.5(HPS4):c.1327C>G (p.Leu443Val) rs2014410
NM_022081.5(HPS4):c.1479T>A (p.Asp493Glu) rs777570870
NM_022081.5(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.5(HPS4):c.1543T>C (p.Cys515Arg) rs148134252
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_022081.5(HPS4):c.1641C>T (p.Cys547=) rs199740072
NM_022081.5(HPS4):c.1654G>A (p.Val552Met) rs5752330
NM_022081.5(HPS4):c.1680G>A (p.Pro560=) rs527653764
NM_022081.5(HPS4):c.1692C>T (p.Asp564=) rs759632995
NM_022081.5(HPS4):c.1700C>T (p.Ala567Val) rs140234219
NM_022081.5(HPS4):c.1747G>A (p.Glu583Lys) rs145481980
NM_022081.5(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.5(HPS4):c.1816C>T (p.His606Tyr) rs1894706
NM_022081.5(HPS4):c.1857G>A (p.Pro619=) rs373421312
NM_022081.5(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.5(HPS4):c.1875G>T (p.Gln625His) rs1894704
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.5(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.5(HPS4):c.1959T>C (p.Asn653=) rs202120615
NM_022081.5(HPS4):c.2079C>T (p.Ser693=) rs138189133
NM_022081.5(HPS4):c.2084_2088AAGCA[3] (p.Lys699fs) rs281865100
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.373C>G (p.Leu125Val) rs180729981
NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.5(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.5(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.5(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.57dup (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.5(HPS4):c.617C>T (p.Pro206Leu) rs746492833
NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.5(HPS4):c.686A>G (p.Glu229Gly) rs713998
NM_022081.5(HPS4):c.687G>A (p.Glu229=) rs758547221
NM_022081.5(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.5(HPS4):c.706+15G>T rs762647750
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_022081.5(HPS4):c.765C>T (p.Ala255=) rs886057318
NM_022081.5(HPS4):c.81G>A (p.Lys27=) rs763708665
NM_022081.5(HPS4):c.877C>G (p.Leu293Val) rs886057317
NM_022081.5(HPS4):c.922A>G (p.Thr308Ala) rs150057646
NM_022081.5(HPS4):c.931C>A (p.Pro311Thr) rs140732502
NM_022081.5(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_022081.5(HPS4):c.958G>C (p.Asp320His) rs143965829

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