ClinVar Miner

List of variants reported as benign for Anophthalmia-microphthalmia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_007374.3(SIX6):c.-161T>C rs1956558 0.87468
NM_007374.3(SIX6):c.*101C>G rs1061108 0.86204
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_007374.3(SIX6):c.421C>A (p.His141Asn) rs33912345 0.45414
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_021728.4(OTX2):c.831C>T (p.Asn277=) rs78559885 0.00171
NM_021728.4(OTX2):c.97+20C>T rs369946194 0.00063
NM_021728.4(OTX2):c.840T>C (p.Ala280=) rs201396096 0.00005
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150

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.