ClinVar Miner

List of variants studied for Septo-optic dysplasia sequence

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NC_000003.12:g.57200194A>C rs983243 0.00148
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_003865.2(HESX1):c.-230T>A rs549564119 0.00050
NM_003865.3(HESX1):c.220G>A (p.Val74Met) rs148422263 0.00014
NM_003865.3(HESX1):c.-6G>A rs368171529 0.00012
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_003865.3(HESX1):c.*48G>A rs372550682 0.00005
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_003865.3(HESX1):c.11G>A (p.Ser4Asn) rs1332400265 0.00001
NM_003865.3(HESX1):c.124C>T (p.His42Tyr) rs761470587 0.00001
NM_003865.3(HESX1):c.183T>C (p.His61=) rs374187836 0.00001
NM_003865.3(HESX1):c.240del (p.Glu81fs) rs777833871 0.00001
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) rs777223697 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys) rs28936702 0.00001
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
NM_000193.4(SHH):c.562+1G>A
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003865.2(HESX1):c.-203_-200delAATT rs886058754
NM_003865.2(HESX1):c.-245delT rs886058755
NM_003865.3(HESX1):c.*192T>A rs886058753
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) rs141863326
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs) rs748460226
NM_003865.3(HESX1):c.309G>C (p.Leu103Phe)
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
NM_003865.3(HESX1):c.354C>G (p.Asn118Lys)
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu) rs1385826685
NM_003865.3(HESX1):c.460-7A>G rs1579346889
NM_003865.3(HESX1):c.525del (p.Asn178fs)
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) rs758022116

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.