ClinVar Miner

List of variants reported as likely pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP
NC_000003.11:g.(?_4490940)_(4494743_?)del
NC_000003.11:g.(?_4508657_4508905del
NC_000003.12:g.(?_4362134)_(4362264_?)del
NC_000003.12:g.(?_4362134)_(4376399_?)del
NC_000003.12:g.(?_4410855)_(4420156_?)del
NC_000003.12:g.(?_4452866)_(4453059_?)del
NC_000006.11:g.(?_137166776_137167549del
NC_000006.11:g.(?_137187765)_(137191141_?)dup
NC_000022.11:g.(?_21213348)_(21242174_?)del
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000288.4(PEX7):c.131-1G>A
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.418-1G>C
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000382.2(ALDH3A2):c.154_155delAG (p.Ser52Terfs)
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>T
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.126del (p.Thr43fs)
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1443+1G>A
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter)
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000400.3(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter) rs1584203922
NM_001283.5(AP1S1):c.364del (p.Asp122fs) rs767358930
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.244A>G (p.Ile82Val) rs1566528711
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_005094.4(SLC27A4):c.1511G>T (p.Arg504Leu)
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met) rs765311079
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006846.3(SPINK5):c.2441+1G>A rs1561701382
NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)
NM_006846.4(SPINK5):c.2441+3_2441+6del
NM_006846.4(SPINK5):c.81+5G>A
NM_014908.4(DOLK):c.731dup (p.Phe245fs) rs1588262474
NM_016006.6(ABHD5):c.730dup (p.Thr244fs)
NM_016006.6(ABHD5):c.836del (p.Gln279fs)
NM_018668.4(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) rs1596358564
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)
NM_022067.4(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243
NM_022067.4(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_022726.4(ELOVL4):c.289-2A>G rs1554162524
NM_182760.4(SUMF1):c.1040del (p.Ala347fs)
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.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.25_270+3del rs1575266004
NM_182760.4(SUMF1):c.270+1del
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg) rs137852851
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
NM_182760.4(SUMF1):c.445-1G>A
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.602+1G>A
NM_182760.4(SUMF1):c.603-1G>C
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.726-1G>A
NM_182760.4(SUMF1):c.726-1G>C
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.954+1G>T
NM_207118.2(GTF2H5):c.36-2A>G rs765378190

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