ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by OMIM

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
Download table as spreadsheet
HGVS dbSNP
MPLKIP, EX1-2DEL
NC_000022.10:g.29758984_29815476del
NM_000122.1(ERCC3):c.355A>C (p.Thr119Pro) rs121913046
NM_000157.4(GBA):c.1049A>G (p.His350Arg) rs78198234
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA):c.1309G>T (p.Val437Phe) rs121908310
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1506-1G>A rs1571964338
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA):c.870C>A (p.Phe290Leu) rs121908313
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_001005741.2(GBA):c.[1448T>C;1483G>C;1497G>C]
NM_001127.3(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.3(AP1B1):c.38-1G>A rs1602761438
NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001283.5(AP1S1):c.183-2A>G rs751430853
NM_001283.5(AP1S1):c.364dup (p.Asp122fs) rs767358930
NM_001289149.1(VPS33B):c.-123T>C rs121434385
NM_002095.6(GTF2E2):c.448G>C (p.Ala150Pro) rs875989846
NM_002095.6(GTF2E2):c.559G>T (p.Asp187Tyr) rs875989847
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.148G>T (p.Asp50Tyr) rs28931594
NM_004004.6(GJB2):c.34G>C (p.Gly12Arg) rs104894408
NM_004004.6(GJB2):c.50C>T (p.Ser17Phe) rs28929485
NM_004782.4(SNAP29):c.487dup (p.Ser163fs) rs387907363
NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr)
NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)
NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His)
NM_005094.4(SLC27A4):c.1748G>A (p.Arg583His) rs137853135
NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) rs137853132
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) rs137853131
NM_005094.4(SLC27A4):c.716-1G>A rs1588559786
NM_005094.4(SLC27A4):c.739T>C (p.Ser247Pro) rs137853133
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg) rs137853134
NM_005094.4(SLC27A4):c.988-19A>G
NM_005094.4(SLC27A4):c.988-2A>G rs764922350
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer)
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) rs794726863
NM_006978.3(RNF113A):c.903_910del (p.Gln302fs) rs1603374549
NM_014908.3(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.3(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.3(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.3(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.3(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_015411.4(SUMF2):c.536-2del rs1584599101
NM_016006.6(ABHD5):c.134-2A>G rs1575600969
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) rs28939077
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) rs387906335
NM_016006.6(ABHD5):c.774-1G>A
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) rs28939078
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) rs104893675
NM_018668.4(VPS33B):c.1225+5G>C rs398122407
NM_018668.4(VPS33B):c.1312C>T (p.Arg438Ter) rs121434384
NM_018668.4(VPS33B):c.1594C>T (p.Arg532Ter) rs121434383
NM_018668.4(VPS33B):c.240-577_290-156del rs1555460030
NM_018668.4(VPS33B):c.700+1G>A rs794726658
NM_018668.5(VPS33B):c.1261_1262del (p.Gln421fs) rs398122408
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517
NM_021978.4(ST14):c.2034del (p.Leu678fs) rs587777263
NM_021978.4(ST14):c.2269+1G>A rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile) rs137852932
NM_022067.4(VIPAS39):c.2T>G (p.Met1Arg) rs267607172
NM_022067.4(VIPAS39):c.535C>T (p.Gln179Ter) rs267607173
NM_022067.4(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925
NM_022067.4(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_022067.4(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171
NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter) rs387906916
NM_022726.4(ELOVL4):c.690del (p.Ile230fs) rs1131690772
NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs) rs587777776
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778
NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu) rs587777777
NM_138701.4(MPLKIP):c.137_138del (p.Gly46fs) rs587776531
NM_138701.4(MPLKIP):c.148_152del (p.His50fs) rs878854339
NM_138701.4(MPLKIP):c.277del (p.Ser93fs) rs587776532
NM_138701.4(MPLKIP):c.430A>G (p.Met144Val) rs137853117
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052
NM_152295.4(TARS1):c.1912C>T (p.Arg638Ter) rs749888012
NM_152295.4(TARS1):c.680T>C (p.Leu227Pro) rs1579584983
NM_152295.4(TARS1):c.826A>G (p.Lys276Glu) rs1579585658
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg) rs137852848
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro) rs137852853
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln) rs137852847
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter) rs137852844
NM_182760.4(SUMF1):c.1A>G (p.Met1Val) rs137852855
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr) rs137852854
NM_182760.4(SUMF1):c.661del (p.Ala221fs) rs770241913
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845
NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364
NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)
SNAP29, 1-BP DEL, 220G
SUMF1, 1-BP DEL, 243C
SUMF1, 1-BP DEL, 276C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.