ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis 5

Included ClinVar conditions (1):
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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_173483.4(CYP4F22):c.*183T>G rs2280436 0.78681
NM_173483.4(CYP4F22):c.939+25C>G rs62113202 0.76022
NM_173483.4(CYP4F22):c.939+21_939+22del rs372183725 0.76019
NM_173483.4(CYP4F22):c.*262C>A rs2280435 0.49259
NM_173483.4(CYP4F22):c.368-24C>T rs4310987 0.33472
NM_173483.4(CYP4F22):c.582G>A (p.Ala194=) rs11666601 0.09265
NM_173483.4(CYP4F22):c.532A>T (p.Ser178Cys) rs16980531 0.03714
NM_173483.4(CYP4F22):c.367+5G>A rs73512652 0.03147
NM_173483.4(CYP4F22):c.447T>C (p.Gly149=) rs114980833 0.02258
NM_173483.4(CYP4F22):c.1513A>C (p.Lys505Gln) rs7256787 0.02189
NM_173483.4(CYP4F22):c.368-9C>G rs76015551 0.01035
NM_173483.4(CYP4F22):c.177C>T (p.Phe59=) rs118091316 0.00847
NM_173483.4(CYP4F22):c.*90C>A rs76748339 0.00673
NM_173483.4(CYP4F22):c.587C>G (p.Ser196Cys) rs79603814 0.00647
NM_173483.4(CYP4F22):c.693C>T (p.Ser231=) rs149616338 0.00491
NM_173483.4(CYP4F22):c.*26G>A rs146912509 0.00488
NM_173483.4(CYP4F22):c.51G>A (p.Thr17=) rs147808045 0.00242
NM_173483.4(CYP4F22):c.*150T>C rs113505294 0.00180
NM_173483.4(CYP4F22):c.*191G>T rs150837991 0.00169
NM_173483.4(CYP4F22):c.785G>A (p.Arg262Gln) rs141631745 0.00133
NM_173483.4(CYP4F22):c.736C>T (p.Arg246Cys) rs148977089 0.00100
NM_173483.4(CYP4F22):c.1006+13G>A rs202078702 0.00093
NM_173483.4(CYP4F22):c.222+15G>A rs374106918 0.00063
NM_173483.4(CYP4F22):c.20G>A (p.Arg7His) rs202066269 0.00043
NM_173483.4(CYP4F22):c.1137-15C>G rs200280289 0.00032
NM_173483.4(CYP4F22):c.160C>T (p.Arg54Cys) rs146026019 0.00030
NM_173483.4(CYP4F22):c.*15C>T rs763226905 0.00025
NM_173483.4(CYP4F22):c.659G>C (p.Ser220Thr) rs371097842 0.00024
NM_173483.4(CYP4F22):c.672-9C>T rs199834906 0.00022
NM_173483.4(CYP4F22):c.874G>A (p.Glu292Lys) rs139163760 0.00021
NM_173483.4(CYP4F22):c.873C>T (p.Ala291=) rs747568295 0.00020
NM_173483.4(CYP4F22):c.485C>G (p.Ala162Gly) rs187004457 0.00018
NM_173483.4(CYP4F22):c.776C>G (p.Ala259Gly) rs188702643 0.00014
NM_173483.4(CYP4F22):c.*95C>G rs148298818 0.00013
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) rs531800013 0.00011
NM_173483.4(CYP4F22):c.989A>T (p.Asp330Val) rs200174659 0.00011
NM_173483.4(CYP4F22):c.461G>A (p.Arg154Gln) rs779288178 0.00010
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_173483.4(CYP4F22):c.470G>A (p.Arg157His) rs199641250 0.00008
NM_173483.4(CYP4F22):c.850C>T (p.Arg284Trp) rs199782025 0.00007
NM_173483.4(CYP4F22):c.*812T>G rs746243661 0.00006
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 0.00006
NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) rs762667660 0.00006
NM_173483.4(CYP4F22):c.1418+8C>T rs372563949 0.00005
NM_173483.4(CYP4F22):c.350C>T (p.Pro117Leu) rs201148124 0.00005
NM_173483.4(CYP4F22):c.387T>C (p.Asp129=) rs150739429 0.00005
NM_173483.4(CYP4F22):c.460C>T (p.Arg154Trp) rs755273482 0.00005
NM_173483.4(CYP4F22):c.*612C>A rs557062698 0.00004
NM_173483.4(CYP4F22):c.-123G>A rs886054263 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) rs755885838 0.00003
NM_173483.4(CYP4F22):c.-1-1G>A rs200464692 0.00002
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_173483.4(CYP4F22):c.784C>T (p.Arg262Trp) rs773826320 0.00002
NM_173483.4(CYP4F22):c.*187C>T rs1001983229 0.00001
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) rs745368359 0.00001
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) rs769229606 0.00001
NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys) rs745942843 0.00001
NM_173483.4(CYP4F22):c.1551G>T (p.Glu517Asp) rs777194622 0.00001
NM_173483.4(CYP4F22):c.1559T>C (p.Leu520Pro) rs1297078466 0.00001
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) rs749972738 0.00001
NM_173483.4(CYP4F22):c.421+1G>A rs773886415 0.00001
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) rs770500550 0.00001
NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) rs776275777 0.00001
NM_173483.4(CYP4F22):c.595A>G (p.Met199Val) rs760550354 0.00001
NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) rs1568361250 0.00001
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) rs768098854 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_173483.4(CYP4F22):c.753C>T (p.Leu251=) rs143506697 0.00001
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854 0.00001
NM_173483.4(CYP4F22):c.89T>C (p.Phe30Ser) rs750775216 0.00001
NG_007987.1:g.(26429_33751)_(48033_?)del
NM_173483.3(CYP4F22):c.1138del rs1568364107
NM_173483.4(CYP4F22):c.*314G>A rs1971601705
NM_173483.4(CYP4F22):c.*422A>C rs1359203696
NM_173483.4(CYP4F22):c.*426C>T rs534702412
NM_173483.4(CYP4F22):c.*427C>G rs138230079
NM_173483.4(CYP4F22):c.*429C>G rs1049506184
NM_173483.4(CYP4F22):c.*430C>G rs551530110
NM_173483.4(CYP4F22):c.*432A>C rs1313579774
NM_173483.4(CYP4F22):c.*450C>A rs2280434
NM_173483.4(CYP4F22):c.*45C>T rs1971597025
NM_173483.4(CYP4F22):c.*650C>T rs546418524
NM_173483.4(CYP4F22):c.1001T>C (p.Phe334Ser)
NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) rs745368359
NM_173483.4(CYP4F22):c.1137-18_1137-4del rs1568364101
NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) rs1568364117
NM_173483.4(CYP4F22):c.1177_1179del (p.Lys393del) rs1971554136
NM_173483.4(CYP4F22):c.1270+5C>T rs758198588
NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) rs118203936
NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) rs200581968
NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) rs144961059
NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) rs1403531884
NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) rs1568365205
NM_173483.4(CYP4F22):c.1493T>G (p.Leu498Arg) rs1568365210
NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) rs1167473603
NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) rs1360295659
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly) rs1449980834
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) rs369811073
NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter) rs2144518363
NM_173483.4(CYP4F22):c.367+1G>A rs1568357749
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) rs1382435790
NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) rs1568360348
NM_173483.4(CYP4F22):c.549+3G>A
NM_173483.4(CYP4F22):c.549+5G>C rs1568360387
NM_173483.4(CYP4F22):c.550-11_550-4delinsGGTGACATCTGG rs1568360470
NM_173483.4(CYP4F22):c.550-2A>T rs1568360475
NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) rs1568360526
NM_173483.4(CYP4F22):c.643_644del (p.Val215fs) rs1568360554
NM_173483.4(CYP4F22):c.720_723del (p.Val241fs) rs751937099
NM_173483.4(CYP4F22):c.748T>C (p.Tyr250His) rs1971446000
NM_173483.4(CYP4F22):c.862C>A (p.Gln288Lys) rs549559441
NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) rs1159994392
NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) rs370734976
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124
NM_173483.4(CYP4F22):c.940-1G>A rs1568362605
NM_173483.4(CYP4F22):c.981del (p.Glu328fs) rs1568362644

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