ClinVar Miner

List of variants in gene HPS4 reported as uncertain significance for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP
NM_001349896.1(HPS4):c.-116C>T rs886057321
NM_001349896.1(HPS4):c.-18A>G
NM_001349896.1(HPS4):c.-281A>G
NM_001349896.1(HPS4):c.-312C>T
NM_001349896.1(HPS4):c.-317G>A
NM_001349896.1(HPS4):c.-42A>G rs369803062
NM_001349896.1(HPS4):c.-479+2T>A
NM_001349896.1(HPS4):c.-479+47G>T rs886057323
NM_001349896.1(HPS4):c.-531G>C rs886057324
NM_001349896.1(HPS4):c.-537C>G
NM_001349896.1(HPS4):c.-543C>T rs886057325
NM_001349896.1(HPS4):c.-569C>T rs34019374
NM_001349896.1(HPS4):c.38C>T (p.Ser13Leu)
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_152841.2(HPS4):c.*1024_*1028del rs886057313
NM_152841.2(HPS4):c.*1120C>T rs886057312
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.*1207T>C
NM_152841.2(HPS4):c.*1207_*1227delinsC rs886057310
NM_152841.2(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_152841.2(HPS4):c.*1209T>C
NM_152841.2(HPS4):c.*1223T>C
NM_152841.2(HPS4):c.*1223_*1238del rs886057303
NM_152841.2(HPS4):c.*1225T>C rs886057311
NM_152841.2(HPS4):c.*1227T>C rs7293228
NM_152841.2(HPS4):c.*1227_*1236del rs755364858
NM_152841.2(HPS4):c.*1229C>T rs6147576
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.*1229_*1237delinsTGT rs886057304
NM_152841.2(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_152841.2(HPS4):c.*1231C>T rs56271395
NM_152841.2(HPS4):c.*1233C>T
NM_152841.2(HPS4):c.*1235C>T
NM_152841.2(HPS4):c.*1236G>A
NM_152841.2(HPS4):c.*1236_*1237insTAA rs1555885488
NM_152841.2(HPS4):c.*1237C>T rs886057305
NM_152841.2(HPS4):c.*1256C>T rs886057299
NM_152841.2(HPS4):c.*1359A>T rs886057298
NM_152841.2(HPS4):c.*1528T>G
NM_152841.2(HPS4):c.*1576C>T rs886057297
NM_152841.2(HPS4):c.*1594G>C rs886057296
NM_152841.2(HPS4):c.*1691G>A
NM_152841.2(HPS4):c.*1752C>G rs886057295
NM_152841.2(HPS4):c.*1762G>A rs139974836
NM_152841.2(HPS4):c.*197G>T rs550753111
NM_152841.2(HPS4):c.*2171C>T
NM_152841.2(HPS4):c.*228A>C
NM_152841.2(HPS4):c.*333C>T
NM_152841.2(HPS4):c.*369C>T rs886057316
NM_152841.2(HPS4):c.*391G>A rs886057315
NM_152841.2(HPS4):c.*423G>A
NM_152841.2(HPS4):c.*469C>T
NM_152841.2(HPS4):c.*477C>T
NM_152841.2(HPS4):c.*515G>C rs886057314
NM_152841.2(HPS4):c.*769G>A
NM_152841.2(HPS4):c.*842G>A
NM_152841.2(HPS4):c.*946G>A
NM_152841.2(HPS4):c.113C>A (p.Ser38Tyr)
NM_152841.2(HPS4):c.1177A>C (p.Arg393=) rs375655372
NM_152841.2(HPS4):c.118-6C>T
NM_152841.2(HPS4):c.1217G>A (p.Ser406Asn) rs201043011
NM_152841.2(HPS4):c.1381C>T (p.Arg461Cys)
NM_152841.2(HPS4):c.1440G>A (p.Thr480=)
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.1664C>T (p.Pro555Leu)
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.1732G>A (p.Glu578Lys) rs145481980
NM_152841.2(HPS4):c.1743G>A (p.Leu581=)
NM_152841.2(HPS4):c.1842G>A (p.Pro614=) rs373421312
NM_152841.2(HPS4):c.1882G>A (p.Val628Ile)
NM_152841.2(HPS4):c.1932G>A (p.Met644Ile)
NM_152841.2(HPS4):c.1944T>C (p.Asn648=) rs202120615
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.396G>A (p.Thr132=)
NM_152841.2(HPS4):c.422T>C (p.Ile141Thr)
NM_152841.2(HPS4):c.538C>T (p.Arg180Cys) rs369104384
NM_152841.2(HPS4):c.555C>T (p.Leu185=)
NM_152841.2(HPS4):c.578G>A (p.Gly193Glu)
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.603G>A (p.Pro201=)
NM_152841.2(HPS4):c.622G>A (p.Val208Ile)
NM_152841.2(HPS4):c.665C>T (p.Thr222Met)
NM_152841.2(HPS4):c.66G>A (p.Lys22=) rs763708665
NM_152841.2(HPS4):c.672G>A (p.Glu224=) rs758547221
NM_152841.2(HPS4):c.689A>G (p.His230Arg)
NM_152841.2(HPS4):c.691+10G>A
NM_152841.2(HPS4):c.691+15G>T rs762647750
NM_152841.2(HPS4):c.691+8G>C
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.712G>A (p.Val238Ile)
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.819T>A (p.Asp273Glu)
NM_152841.2(HPS4):c.862C>G (p.Leu288Val) rs886057317
NM_152841.2(HPS4):c.873C>T (p.Asn291=) rs138343171
NM_152841.2(HPS4):c.907A>G (p.Thr303Ala) rs150057646
NM_152841.2(HPS4):c.915T>C (p.Asp305=)
NM_152841.2(HPS4):c.916C>A (p.Pro306Thr) rs140732502
NM_152841.2(HPS4):c.943G>C (p.Asp315His) rs143965829
NM_152841.2(HPS4):c.999C>T (p.Pro333=)

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