ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis 10 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_001374623.1(PNPLA1):c.1595+430T>C rs182222837 0.00534
NM_001374623.1(PNPLA1):c.1595+640G>A rs137961117 0.00484
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_001374623.1(PNPLA1):c.1595+544A>G rs145087163 0.00340
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_001374623.1(PNPLA1):c.537G>A (p.Gln179=) rs147389149 0.00184
NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) rs141744967 0.00072
NM_001374623.1(PNPLA1):c.627C>T (p.His209=) rs187453727 0.00026
NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) rs770164167 0.00024
NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly) rs371888522 0.00021
NM_001374623.1(PNPLA1):c.1595+414C>T rs886061377 0.00019
NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) rs767322248 0.00014
NM_001374623.1(PNPLA1):c.1595+622G>A rs535470541 0.00014
NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=) rs185312959 0.00014
NM_001374623.1(PNPLA1):c.813T>A (p.Ile271=) rs201231660 0.00014
NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu) rs143843185 0.00014
NM_001374623.1(PNPLA1):c.439-7C>T rs373711651 0.00012
NM_001374623.1(PNPLA1):c.1420G>A (p.Ala474Thr) rs139909055 0.00011
NM_001374623.1(PNPLA1):c.1062T>G (p.Pro354=) rs761075511 0.00010
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004
NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=) rs139173161 0.00004
NM_001374623.1(PNPLA1):c.934A>G (p.Lys312Glu) rs199548644 0.00004
NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) rs371283191 0.00003
NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) rs181087505 0.00003
NM_001374623.1(PNPLA1):c.438+10C>T rs886061373 0.00002
NM_001374623.1(PNPLA1):c.955G>A (p.Asp319Asn) rs182227800 0.00002
NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) rs1327123712 0.00001
NM_001374623.1(PNPLA1):c.1469+10C>G rs373131816 0.00001
NM_001374623.1(PNPLA1):c.1595+550A>G rs373548589 0.00001
NM_001374623.1(PNPLA1):c.1595+842C>T rs759813381 0.00001
NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) rs749816424 0.00001
NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=) rs886061374 0.00001
NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) rs1231123861 0.00001
NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) rs1771089963
NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) rs1771090642
NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) rs375901638
NM_001374623.1(PNPLA1):c.1595+221G>C rs150486914
NM_001374623.1(PNPLA1):c.1595+777A>T rs1212752036
NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) rs1561864099
NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) rs141261965
NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) rs140585347
NM_001374623.1(PNPLA1):c.439-6G>A rs201125928
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) rs748310345
NM_001374623.1(PNPLA1):c.715-10C>T rs1770824903
NM_001374623.1(PNPLA1):c.889C>T (p.Leu297Phe) rs752011907

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.