ClinVar Miner

List of variants reported as likely benign for obsolete anophthalmia-microphthalmia syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_021728.4(OTX2):c.663C>T (p.Pro221=) rs142743327 0.00089
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_021728.4(OTX2):c.757G>A (p.Ala253Thr) rs139800030 0.00011
NM_021728.4(OTX2):c.477C>A (p.Ile159=) rs373798705 0.00009
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_021728.4(OTX2):c.372T>C (p.Ser124=) rs763911822 0.00002
NM_021728.4(OTX2):c.873G>A (p.Ser291=) rs759833842 0.00002
NM_021728.4(OTX2):c.150G>A (p.Arg50=) rs1246931412 0.00001
NM_021728.4(OTX2):c.192G>A (p.Leu64=) rs141664597 0.00001
NM_021728.4(OTX2):c.226C>A (p.Arg76=) rs773157352 0.00001
NM_021728.4(OTX2):c.411C>T (p.Gly137=) rs772021946 0.00001
NM_021728.4(OTX2):c.423C>A (p.Pro141=) rs372008404 0.00001
NM_021728.4(OTX2):c.744C>A (p.Thr248=) rs1026307269 0.00001
NM_021728.4(OTX2):c.126C>A (p.Thr42=) rs750923926
NM_021728.4(OTX2):c.168G>T (p.Ala56=) rs1354433789
NM_021728.4(OTX2):c.192G>C (p.Leu64=)
NM_021728.4(OTX2):c.207G>A (p.Arg69=)
NM_021728.4(OTX2):c.270G>A (p.Val90=)
NM_021728.4(OTX2):c.273+10A>T
NM_021728.4(OTX2):c.274-4C>T rs778847365
NM_021728.4(OTX2):c.297T>C (p.Ala99=) rs2139529344
NM_021728.4(OTX2):c.426C>A (p.Pro142=) rs553884027
NM_021728.4(OTX2):c.426C>T (p.Pro142=) rs553884027
NM_021728.4(OTX2):c.43C>T (p.Leu15=)
NM_021728.4(OTX2):c.441C>G (p.Val147=)
NM_021728.4(OTX2):c.444G>A (p.Pro148=) rs147896150
NM_021728.4(OTX2):c.453C>T (p.Ala151=)
NM_021728.4(OTX2):c.483C>T (p.Ser161=) rs538192166
NM_021728.4(OTX2):c.543G>A (p.Arg181=) rs1184804231
NM_021728.4(OTX2):c.561T>C (p.Tyr187=)
NM_021728.4(OTX2):c.579T>C (p.Tyr193=) rs2139528485
NM_021728.4(OTX2):c.597C>G (p.Gly199=) rs775913832
NM_021728.4(OTX2):c.666A>G (p.Gly222=)
NM_021728.4(OTX2):c.75G>A (p.Leu25=) rs2139537208
NM_021728.4(OTX2):c.804G>A (p.Lys268=) rs1891888606
NM_021728.4(OTX2):c.81C>T (p.Pro27=) rs1892047371
NM_021728.4(OTX2):c.837T>C (p.Asn279=) rs2139527617
NM_021728.4(OTX2):c.867A>T (p.Thr289=) rs2139527552
NM_021728.4(OTX2):c.873G>C (p.Ser291=) rs759833842
NM_021728.4(OTX2):c.90C>A (p.Gly30=)

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