ClinVar Miner

List of variants reported as likely benign for autosomal recessive congenital ichthyosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.*539dup rs139753893 0.07781
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_173483.4(CYP4F22):c.177C>T (p.Phe59=) rs118091316 0.00847
NM_021628.3(ALOXE3):c.*87C>T rs75448808 0.00699
NM_021628.3(ALOXE3):c.-304G>T rs79377087 0.00560
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_001374623.1(PNPLA1):c.1595+430T>C rs182222837 0.00534
NM_001099287.2(NIPAL4):c.*227T>A rs181287300 0.00529
NM_001099287.2(NIPAL4):c.*228C>G rs184168328 0.00529
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_173483.4(CYP4F22):c.693C>T (p.Ser231=) rs149616338 0.00491
NM_173483.4(CYP4F22):c.*26G>A rs146912509 0.00488
NM_001099287.2(NIPAL4):c.*623T>C rs138577196 0.00441
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys) rs80145541 0.00384
NM_001139.3(ALOX12B):c.1179C>T (p.His393=) rs112835279 0.00365
NM_001099287.2(NIPAL4):c.*32C>T rs62388499 0.00347
NM_001374623.1(PNPLA1):c.1595+544A>G rs145087163 0.00340
NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala) rs183419459 0.00310
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) rs140585347 0.00290
NM_021628.3(ALOXE3):c.1786-10G>A rs148606343 0.00289
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_173483.4(CYP4F22):c.51G>A (p.Thr17=) rs147808045 0.00242
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_021628.3(ALOXE3):c.*392G>A rs188419202 0.00210
NM_000423.2(KRT2):c.*466A>C rs188447443 0.00209
NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=) rs116399915 0.00187
NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=) rs147389149 0.00184
NM_173483.4(CYP4F22):c.*191G>T rs150837991 0.00169
NM_173483.4(CYP4F22):c.785G>A (p.Arg262Gln) rs141631745 0.00133
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.*162C>A rs8193035 0.00079
NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=) rs374248640 0.00064
NM_000423.3(KRT2):c.*216G>A rs139377296 0.00057
NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu) rs150371678 0.00035
NM_001374623.1(PNPLA1):c.627C>T (p.His209=) rs187453727 0.00026
NM_001099287.1(NIPAL4):c.-41C>T rs555788817 0.00022
NM_000423.3(KRT2):c.134G>A (p.Arg45His) rs149447253 0.00021
NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe) rs540992129 0.00019
NM_000423.3(KRT2):c.1720G>A (p.Gly574Arg) rs139954107 0.00013
NM_000423.3(KRT2):c.1719C>T (p.Tyr573=) rs141769548 0.00006
NM_000423.3(KRT2):c.546C>A (p.Ile182=) rs371939083 0.00005
NM_000423.3(KRT2):c.294C>T (p.Gly98=) rs182369139 0.00004
NM_000423.3(KRT2):c.1204G>A (p.Val402Met) rs756976713 0.00003
NM_000423.3(KRT2):c.1373G>A (p.Arg458Gln) rs755662199 0.00001
NM_001099287.2(NIPAL4):c.*405GTT[6] rs527401652
NM_001374623.1(PNPLA1):c.1595+221G>C rs150486914

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.