ClinVar Miner

List of variants in gene HPS4 studied for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
HPS4, 1-BP DEL, C, CODON 685
NM_022081.5(HPS4):c.*1024_*1028del 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_*1238del rs886057303
NM_022081.5(HPS4):c.*1225T>C rs886057311
NM_022081.5(HPS4):c.*1227T>C rs7293228
NM_022081.5(HPS4):c.*1227_*1236del rs755364858
NM_022081.5(HPS4):c.*1229C>T rs6147576
NM_022081.5(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.5(HPS4):c.*1229_*1237delinsTGTGT 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.*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.15C>T (p.Thr5=) rs144622501
NM_022081.5(HPS4):c.276+5G>A
NM_022081.5(HPS4):c.706+15G>T rs762647750
NM_152841.2(HPS4):c.*1191_*1192TG[16] rs134978
NM_152841.2(HPS4):c.*1191_*1192TG[17] rs134978
NM_152841.2(HPS4):c.*1191_*1192TG[20] rs134978
NM_152841.2(HPS4):c.*1229_*1230CG[4] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[5] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[6] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[7] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[8] rs10573454
NM_152841.2(HPS4):c.1045T>A (p.Ser349Thr) rs114685298
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.1046C>G (p.Ser349Cys) rs116769827
NM_152841.2(HPS4):c.1117C>T (p.Gln373Ter) rs369053765
NM_152841.2(HPS4):c.1177A>C (p.Arg393=) rs375655372
NM_152841.2(HPS4):c.1217G>A (p.Ser406Asn) rs201043011
NM_152841.2(HPS4):c.1312C>G (p.Leu438Val) rs2014410
NM_152841.2(HPS4):c.1464T>A (p.Asp488Glu) rs777570870
NM_152841.2(HPS4):c.1520C>T (p.Ser507Leu) rs150216540
NM_152841.2(HPS4):c.1528T>C (p.Cys510Arg) rs148134252
NM_152841.2(HPS4):c.1626C>T (p.Cys542=) rs199740072
NM_152841.2(HPS4):c.162A>C (p.Gly54=) rs886057320
NM_152841.2(HPS4):c.1639G>A (p.Val547Met) rs5752330
NM_152841.2(HPS4):c.1665G>A (p.Pro555=) rs527653764
NM_152841.2(HPS4):c.1677C>T (p.Asp559=) rs759632995
NM_152841.2(HPS4):c.1685C>T (p.Ala562Val) rs140234219
NM_152841.2(HPS4):c.1732G>A (p.Glu578Lys) rs145481980
NM_152841.2(HPS4):c.1801C>T (p.His601Tyr) rs1894706
NM_152841.2(HPS4):c.1842G>A (p.Pro614=) rs373421312
NM_152841.2(HPS4):c.1851del (p.Thr618fs) rs281865099
NM_152841.2(HPS4):c.1860G>T (p.Gln620His) rs1894704
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.1876C>T (p.Gln626Ter) rs119471021
NM_152841.2(HPS4):c.1884C>T (p.Val628=) rs35993959
NM_152841.2(HPS4):c.1944T>C (p.Asn648=) rs202120615
NM_152841.2(HPS4):c.2064C>T (p.Ser688=) rs138189133
NM_152841.2(HPS4):c.2069_2073AAGCA[3] (p.Lys694fs) rs281865100
NM_152841.2(HPS4):c.235A>G (p.Ile79Val) rs149830675
NM_152841.2(HPS4):c.358C>G (p.Leu120Val) rs180729981
NM_152841.2(HPS4):c.397G>T (p.Glu133Ter) rs119471024
NM_152841.2(HPS4):c.42del (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.42dup (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.446A>G (p.His149Arg) rs281865098
NM_152841.2(HPS4):c.526C>T (p.Gln176Ter) rs119471022
NM_152841.2(HPS4):c.543G>A (p.Ser181=) rs13054747
NM_152841.2(HPS4):c.593C>T (p.Thr198Ile) rs886057319
NM_152841.2(HPS4):c.602C>T (p.Pro201Leu) rs746492833
NM_152841.2(HPS4):c.634C>T (p.Arg212Ter) rs119471023
NM_152841.2(HPS4):c.649G>T (p.Glu217Ter) rs119471025
NM_152841.2(HPS4):c.66G>A (p.Lys22=) rs763708665
NM_152841.2(HPS4):c.671A>G (p.Glu224Gly) rs713998
NM_152841.2(HPS4):c.672G>A (p.Glu224=) rs758547221
NM_152841.2(HPS4):c.681G>A (p.Pro227=) rs3747132
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745
NM_152841.2(HPS4):c.750C>T (p.Ala250=) rs886057318
NM_152841.2(HPS4):c.862C>G (p.Leu288Val) rs886057317
NM_152841.2(HPS4):c.907A>G (p.Thr303Ala) rs150057646
NM_152841.2(HPS4):c.916C>A (p.Pro306Thr) rs140732502
NM_152841.2(HPS4):c.934_957dup (p.Ala312_Glu319dup) rs281865164
NM_152841.2(HPS4):c.943G>C (p.Asp315His) rs143965829

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