ClinVar Miner

List of variants reported as benign for dermis disorder

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_058172.6(ANTXR2):c.*3695T>C rs4611863 0.98122
NM_058172.6(ANTXR2):c.*1521A>G rs7747 0.80751
NM_058172.6(ANTXR2):c.*784T>G rs1139638 0.80420
NM_058172.6(ANTXR2):c.*785T>C rs63539261 0.80416
NM_139017.7(IL31RA):c.129C>T (p.Pro43=) rs1009639 0.69690
NM_139017.7(IL31RA):c.606+29A>T rs10940491 0.64076
NM_058172.6(ANTXR2):c.378+8A>C rs4594664 0.61456
NM_058172.6(ANTXR2):c.636+54T>A rs10745242 0.61408
NM_058172.6(ANTXR2):c.*4272C>T rs56708107 0.57619
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_002223.4(ITPR2):c.2883C>T (p.His961=) rs2230372 0.47600
NM_002223.4(ITPR2):c.3801+23G>A rs12832680 0.40056
NM_058172.6(ANTXR2):c.-82C>A rs13140055 0.38249
NM_002223.4(ITPR2):c.2055A>G (p.Ser685=) rs2291264 0.33597
NM_004425.4(ECM1):c.1243G>A (p.Gly415Ser) rs13294 0.33313
NM_002223.4(ITPR2):c.765A>G (p.Glu255=) rs1900941 0.32884
NM_058172.6(ANTXR2):c.*4056T>A rs11946205 0.31619
NM_004425.4(ECM1):c.389C>T (p.Thr130Met) rs3737240 0.29423
NM_002223.4(ITPR2):c.4407A>G (p.Lys1469=) rs2230375 0.26488
NM_002223.4(ITPR2):c.4239C>T (p.Asp1413=) rs2230377 0.26031
NM_002223.4(ITPR2):c.93-10T>A rs7314747 0.23365
NM_058172.6(ANTXR2):c.-319C>G rs11557908 0.18441
NM_058172.6(ANTXR2):c.-410G>A rs72869605 0.18258
NM_139017.7(IL31RA):c.1449T>G (p.Gly483=) rs9632389 0.13291
NM_058172.6(ANTXR2):c.*1671T>G rs2760 0.11504
NM_058172.6(ANTXR2):c.*5602C>G rs4331719 0.10728
NM_058172.6(ANTXR2):c.*28C>T rs61048419 0.08261
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108 0.06853
NM_058172.6(ANTXR2):c.-230_-229del rs80314910 0.06101
NM_058172.6(ANTXR2):c.*1663G>A rs113322831 0.03500
NM_058172.6(ANTXR2):c.*677C>T rs149404014 0.01921
NM_058172.6(ANTXR2):c.-590A>T rs142313419 0.01544
NM_004425.4(ECM1):c.792G>A (p.Glu264=) rs78194273 0.01478
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01410
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01167
NM_058172.6(ANTXR2):c.796+9C>T rs113482034 0.01026
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133 0.00790
NM_058172.6(ANTXR2):c.*5547T>C rs114779758 0.00613
NM_058172.6(ANTXR2):c.*1558C>T rs150281545 0.00454
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_004425.4(ECM1):c.1083+10C>T rs55770822 0.00336
NM_058172.6(ANTXR2):c.*336C>T rs4690108
NM_058172.6(ANTXR2):c.1042-114G>A rs4444771
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_139017.7(IL31RA):c.1819-26T>G rs16884641

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.