ClinVar Miner

List of variants in gene HPS4 studied for Hermansky-Pudlak syndrome with pulmonary fibrosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP
HPS4, 1-BP DEL, C, CODON 685
NM_001349896.1(HPS4):c.-116C>T rs886057321
NM_001349896.1(HPS4):c.-185A>G rs188205202
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.-395A>C rs147631281
NM_001349896.1(HPS4):c.-42A>G rs369803062
NM_001349896.1(HPS4):c.-479+16C>T rs115916720
NM_001349896.1(HPS4):c.-479+2T>A
NM_001349896.1(HPS4):c.-479+47G>T rs886057323
NM_001349896.1(HPS4):c.-494T>G rs187762406
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.-570G>T rs753668169
NM_001349896.1(HPS4):c.38C>T (p.Ser13Leu)
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_152841.2(HPS4):c.*1120C>T rs886057312
NM_152841.2(HPS4):c.*1207T>C
NM_152841.2(HPS4):c.*1209T>C
NM_152841.2(HPS4):c.*1223T>C
NM_152841.2(HPS4):c.*1227T>C rs7293228
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.*1237C>T rs886057305
NM_152841.2(HPS4):c.*1250C>T rs7291576
NM_152841.2(HPS4):c.*1253G>A rs534586940
NM_152841.2(HPS4):c.*1256C>T rs886057299
NM_152841.2(HPS4):c.*1359A>T rs886057298
NM_152841.2(HPS4):c.*1387T>A
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.*1687A>G rs3752588
NM_152841.2(HPS4):c.*1691G>A
NM_152841.2(HPS4):c.*1752C>G rs886057295
NM_152841.2(HPS4):c.*1850G>A
NM_152841.2(HPS4):c.*1962C>T
NM_152841.2(HPS4):c.*197G>T rs550753111
NM_152841.2(HPS4):c.*2171C>T
NM_152841.2(HPS4):c.*2269A>G
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.*751G>A rs190837977
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.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.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.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.1685C>T (p.Ala562Val) rs140234219
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.1851del (p.Thr618fs) rs281865099
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.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.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.396G>A (p.Thr132=)
NM_152841.2(HPS4):c.397G>T (p.Glu133Ter) rs119471024
NM_152841.2(HPS4):c.422T>C (p.Ile141Thr)
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.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.634C>T (p.Arg212Ter) rs119471023
NM_152841.2(HPS4):c.649G>T (p.Glu217Ter) rs119471025
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.726T>A (p.Pro242=)
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745
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.934_957dup (p.Ala312_Glu319dup) rs281865164
NM_152841.2(HPS4):c.943G>C (p.Asp315His) rs143965829
NM_152841.2(HPS4):c.999C>T (p.Pro333=)

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