ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_022081.6(HPS4):c.*1233C>T rs770072939 0.16771
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_022081.6(HPS4):c.*1227T>C rs7293228 0.01801
NM_022081.6(HPS4):c.*1235C>T rs1235169942 0.01229
NM_022081.6(HPS4):c.*1528T>G rs7292764 0.00979
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_022081.6(HPS4):c.*1207T>C rs534698074 0.00842
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_022081.6(HPS4):c.*1223T>C rs1367343497 0.00724
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_022081.6(HPS4):c.*1237C>T rs886057305 0.00384
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_022081.6(HPS4):c.888C>T (p.Asn296=) rs138343171 0.00086
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_022081.5(HPS4):c.-628C>G rs56821996 0.00078
NM_022081.6(HPS4):c.*769G>A rs187297219 0.00071
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_022081.6(HPS4):c.618G>A (p.Pro206=) rs139165558 0.00043
NM_022081.6(HPS4):c.704A>G (p.His235Arg) rs150166679 0.00040
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_022081.6(HPS4):c.*1236G>A rs1356149759 0.00035
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) rs146303784 0.00033
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) rs145481980 0.00030
NM_022081.6(HPS4):c.-42A>G rs369803062 0.00025
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) rs375655372 0.00023
NM_022081.5(HPS4):c.-622G>C rs886057324 0.00022
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) rs140732502 0.00022
NM_022081.6(HPS4):c.-568T>A rs1023210861 0.00021
NM_022081.6(HPS4):c.133-6C>T rs571184796 0.00021
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) rs527653764 0.00017
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) rs202120615 0.00015
NM_022081.6(HPS4):c.*1209T>C rs749313648 0.00013
NM_022081.6(HPS4):c.706+8G>C rs3747131 0.00013
NM_022081.6(HPS4):c.*2171C>T rs1013987506 0.00011
NM_022081.6(HPS4):c.-479+5G>A rs886057322 0.00011
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) rs369104384 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_022081.6(HPS4):c.*469C>T rs959233919 0.00009
NM_022081.6(HPS4):c.*423G>A rs552928725 0.00007
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) rs201043011 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_022081.6(HPS4):c.*1359A>T rs886057298 0.00004
NM_022081.6(HPS4):c.*1576C>T rs886057297 0.00004
NM_022081.6(HPS4):c.*842G>A rs887874663 0.00004
NM_022081.6(HPS4):c.*946G>A rs1014910744 0.00004
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) rs202222123 0.00004
NM_022081.6(HPS4):c.570C>T (p.Leu190=) rs201820144 0.00004
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) rs201806802 0.00004
NM_022081.6(HPS4):c.*1594G>C rs886057296 0.00003
NM_022081.6(HPS4):c.*197G>T rs550753111 0.00003
NM_022081.6(HPS4):c.*369C>T rs886057316 0.00003
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) rs778872709 0.00003
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) rs746492833 0.00003
NM_022081.6(HPS4):c.*1256C>T rs886057299 0.00002
NM_022081.6(HPS4):c.*1691G>A rs1405392401 0.00002
NM_022081.6(HPS4):c.*228A>C rs182700538 0.00002
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) rs756215705 0.00002
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) rs199740072 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) rs549798245 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_022081.6(HPS4):c.*391G>A rs886057315 0.00001
NM_022081.6(HPS4):c.-18A>G rs1159855728 0.00001
NM_022081.6(HPS4):c.-523G>T rs886057323 0.00001
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) rs777570870 0.00001
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) rs759632995 0.00001
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) rs1356334936 0.00001
NM_022081.6(HPS4):c.411G>A (p.Thr137=) rs375462083 0.00001
NM_022081.6(HPS4):c.637G>A (p.Val213Ile) rs766791829 0.00001
NM_022081.6(HPS4):c.687G>A (p.Glu229=) rs758547221 0.00001
NM_022081.6(HPS4):c.81G>A (p.Lys27=) rs763708665 0.00001
NM_022081.6(HPS4):c.930T>C (p.Asp310=) rs1210344296 0.00001
NM_022081.6(HPS4):c.958G>C (p.Asp320His) rs143965829 0.00001
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.6(HPS4):c.*1120C>T rs886057312
NM_022081.6(HPS4):c.*1752C>G rs886057295
NM_022081.6(HPS4):c.*333C>T rs2085445155
NM_022081.6(HPS4):c.*515G>C rs886057314
NM_022081.6(HPS4):c.-116C>T rs886057321
NM_022081.6(HPS4):c.-281A>G rs1028325475
NM_022081.6(HPS4):c.-312C>T rs2091338704
NM_022081.6(HPS4):c.-317G>A rs2091338920
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) rs2091003499
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.6(HPS4):c.706+10G>A rs2088578226
NM_022081.6(HPS4):c.706+15G>T rs762647750
NM_022081.6(HPS4):c.727G>A (p.Val243Ile) rs749572804
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034

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