ClinVar Miner

List of variants reported as benign for autosomal ichthyosis syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 285
Download table as spreadsheet
HGVS dbSNP
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*306T>G rs1050803
NM_000288.4(PEX7):c.-56C>T rs73777751
NM_000288.4(PEX7):c.-65A>T
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1362G>A
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877_*1878CA[1]
NM_000382.3(ALDH3A2):c.*36G>A
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.5(GJB2):c.-216T>G rs574815423
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084
NM_004782.4(SNAP29):c.*1129T>C rs165801
NM_004782.4(SNAP29):c.*123G>C rs3171741
NM_004782.4(SNAP29):c.*138C>T rs375995790
NM_004782.4(SNAP29):c.*1490T>C rs12168260
NM_004782.4(SNAP29):c.*1519T>C rs165861
NM_004782.4(SNAP29):c.*1563T>G rs11577
NM_004782.4(SNAP29):c.*2105T>G rs5752201
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2551G>A rs73162856
NM_004782.4(SNAP29):c.*2692C>T rs148419415
NM_004782.4(SNAP29):c.*2783C>T rs142566638
NM_004782.4(SNAP29):c.*2791T>C rs187911143
NM_004782.4(SNAP29):c.*2795C>T rs9625042
NM_004782.4(SNAP29):c.*2796G>A
NM_004782.4(SNAP29):c.*2816A>G rs165739
NM_004782.4(SNAP29):c.*2856G>A rs9625044
NM_004782.4(SNAP29):c.*2872G>A rs111581119
NM_004782.4(SNAP29):c.*2879C>T rs140626919
NM_004782.4(SNAP29):c.*2892C>T
NM_004782.4(SNAP29):c.*2961T>C rs165715
NM_004782.4(SNAP29):c.*3015G>A rs145199625
NM_004782.4(SNAP29):c.*420A>G rs178077
NM_004782.4(SNAP29):c.*521T>A rs361998
NM_004782.4(SNAP29):c.*740C>T rs79383799
NM_004782.4(SNAP29):c.*755A>G
NM_004782.4(SNAP29):c.-19C>T rs1061063
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.-5G>A rs139884576
NM_004782.4(SNAP29):c.-68A>T rs117593372
NM_004782.4(SNAP29):c.-8C>G rs186825747
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436
NM_006214.4(PHYH):c.*189del rs3839912
NM_006214.4(PHYH):c.*65G>A rs11133
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.643G>A (p.Gly215Ser) rs7901902
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006846.3(SPINK5):c.*208C>G rs3088193
NM_006846.3(SPINK5):c.*330T>C rs72660265
NM_006846.3(SPINK5):c.*361_*363dup rs397704765
NM_006846.3(SPINK5):c.*44T>C rs4349706
NM_006846.3(SPINK5):c.*59C>T rs73794699
NM_006846.3(SPINK5):c.-61A>C rs74572734
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.119G>C (p.Gly40Ala) rs73269156
NM_006846.3(SPINK5):c.1322G>A (p.Arg441His) rs34393923
NM_006846.3(SPINK5):c.1344G>A (p.Arg448=) rs17107741
NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+15C>T rs3752677
NM_006846.3(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445
NM_006846.3(SPINK5):c.2754A>G (p.Glu918=) rs114635730
NM_006846.3(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166
NM_006846.3(SPINK5):c.2864T>C (p.Val955Ala) rs115820034
NM_006846.3(SPINK5):c.2895G>A (p.Lys965=) rs34966234
NM_006846.3(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691
NM_006846.3(SPINK5):c.2915A>G (p.His972Arg) rs17705005
NM_006846.3(SPINK5):c.2965-10G>C rs58888156
NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) rs17860502
NM_006846.3(SPINK5):c.3186+8C>T rs115366845
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.4(SPINK5):c.-19G>A
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796
NM_006846.4(SPINK5):c.1011-12C>T rs1422991
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.4(SPINK5):c.2667-13A>T rs2052537
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205
NM_014908.3(DOLK):c.-49A>G rs116439010
NM_015354.3(NUP188):c.-13C>T rs3750324
NM_016006.6(ABHD5):c.*1110G>C rs2191361
NM_016006.6(ABHD5):c.*1346_*1348del rs58997366
NM_016006.6(ABHD5):c.*1417A>G rs3733156
NM_016006.6(ABHD5):c.*1613T>C rs12491747
NM_016006.6(ABHD5):c.*1662A>G rs117110703
NM_016006.6(ABHD5):c.*1756G>T rs34048061
NM_016006.6(ABHD5):c.*1757A>G rs113347419
NM_016006.6(ABHD5):c.*1834C>G rs12488350
NM_016006.6(ABHD5):c.*1863G>A rs12488392
NM_016006.6(ABHD5):c.*2137A>G rs144521114
NM_016006.6(ABHD5):c.*2324G>T rs17075919
NM_016006.6(ABHD5):c.*2463A>G rs76200032
NM_016006.6(ABHD5):c.*2508A>G rs75590382
NM_016006.6(ABHD5):c.*281C>A rs34226283
NM_016006.6(ABHD5):c.*2935C>A rs10433606
NM_016006.6(ABHD5):c.*3253A>T rs10433548
NM_016006.6(ABHD5):c.*38T>G rs887472
NM_016006.6(ABHD5):c.*3952T>C rs758729
NM_016006.6(ABHD5):c.*4147G>T rs758728
NM_016006.6(ABHD5):c.-19C>T rs117630969
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) rs141365045
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) rs115209685
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497
NM_018668.4(VPS33B):c.-271A>C rs116461458
NM_018668.4(VPS33B):c.-325T>C rs11073967
NM_018668.4(VPS33B):c.-8C>T rs11542639
NM_018668.4(VPS33B):c.1105+9C>T rs3826033
NM_018668.4(VPS33B):c.1332G>A (p.Thr444=) rs147407982
NM_018668.4(VPS33B):c.151C>A (p.Arg51=) rs11542638
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964
NM_018668.4(VPS33B):c.1656A>T (p.Thr552=) rs16945153
NM_018668.4(VPS33B):c.1671A>G (p.Glu557=) rs148071246
NM_018668.4(VPS33B):c.357G>A (p.Lys119=) rs146758743
NM_018668.4(VPS33B):c.597C>T (p.Cys199=) rs60198611
NM_018668.4(VPS33B):c.609A>G (p.Ala203=) rs76867988
NM_018668.4(VPS33B):c.648C>T (p.Gly216=) rs59648701
NM_018668.5(VPS33B):c.-7C>G
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362
NM_139057.4(ADAMTS17):c.*113A>G rs2581341
NM_139057.4(ADAMTS17):c.*116T>C rs143850369
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195
NM_139057.4(ADAMTS17):c.*1565G>C
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706
NM_139057.4(ADAMTS17):c.*1859C>T
NM_139057.4(ADAMTS17):c.*189G>C rs2581343
NM_139057.4(ADAMTS17):c.*190G>A rs2727199
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2453C>T
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016
NM_139057.4(ADAMTS17):c.*316T>C rs2581345
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926
NM_139057.4(ADAMTS17):c.*425C>A rs574877864
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*439G>A rs140255903
NM_139057.4(ADAMTS17):c.*46C>G rs2581340
NM_139057.4(ADAMTS17):c.*486G>A rs117381111
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*510C>T rs2573650
NM_139057.4(ADAMTS17):c.*544G>A rs2581348
NM_139057.4(ADAMTS17):c.*567G>A
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*671C>T rs76681073
NM_139057.4(ADAMTS17):c.*692G>C rs187035332
NM_139057.4(ADAMTS17):c.*700G>A rs60022871
NM_139057.4(ADAMTS17):c.*743G>A rs74036641
NM_139057.4(ADAMTS17):c.*82G>A rs3825894
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*885A>G rs2727198
NM_139057.4(ADAMTS17):c.*900T>C rs2581359
NM_139057.4(ADAMTS17):c.*989G>A rs57279107
NM_139057.4(ADAMTS17):c.*99A>G
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-20G>T
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn)
NM_139057.4(ADAMTS17):c.2591+14T>G
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614
NM_182760.4(SUMF1):c.*10A>G rs35083095
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*189G>A
NM_182760.4(SUMF1):c.*210C>T
NM_182760.4(SUMF1):c.*214A>G rs2819562
NM_182760.4(SUMF1):c.*291G>A rs4685744
NM_182760.4(SUMF1):c.*292T>A rs74979662
NM_182760.4(SUMF1):c.*398C>T rs116909525
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*471T>G rs2259818
NM_182760.4(SUMF1):c.*518T>C rs17040504
NM_182760.4(SUMF1):c.*552T>G rs10514655
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.*61T>C rs2819561
NM_182760.4(SUMF1):c.*675A>C rs14275
NM_182760.4(SUMF1):c.*805C>T rs79031951
NM_182760.4(SUMF1):c.*917G>T rs116661242
NM_182760.4(SUMF1):c.*92A>G
NM_182760.4(SUMF1):c.-9C>T rs148200251
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590
NM_182760.4(SUMF1):c.602+13C>T rs80204284
NM_182760.4(SUMF1):c.841-14G>A rs9852367
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940

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