ClinVar Miner

List of variants reported as likely benign for Anophthalmia-microphthalmia syndrome

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ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_007374.3(SIX6):c.21G>A (p.Leu7=) rs61746410 0.02217
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_181711.4(TAMALIN):c.1084G>A (p.Gly362Ser) rs200789033 0.00715
NM_007374.3(SIX6):c.-64C>T rs148591528 0.00594
NM_007374.3(SIX6):c.-147T>C rs551864637 0.00534
NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly) rs150079294 0.00397
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_205860.3(NR5A2):c.884C>T (p.Thr295Met) rs139624279 0.00097
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_007374.3(SIX6):c.-149C>T rs538661695 0.00091
NM_021728.4(OTX2):c.663C>T (p.Pro221=) rs142743327 0.00089
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_173485.6(TSHZ2):c.247T>G (p.Ser83Ala) rs202246859 0.00069
NM_005761.3(PLXNC1):c.3649T>C (p.Cys1217Arg) rs146747324 0.00063
NM_001080779.2(MYO1C):c.391C>T (p.Arg131Cys) rs200048542 0.00048
NM_003741.4(CHRD):c.1370C>G (p.Thr457Ser) rs145871696 0.00048
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_003635.4(NDST2):c.199C>T (p.Arg67Trp) rs141599100 0.00016
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_003013.3(SFRP2):c.626A>G (p.Asp209Gly) rs770485715 0.00008
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser) rs538017286 0.00004
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys) rs369191459 0.00004
NM_003635.4(NDST2):c.25C>T (p.Arg9Cys) rs368488804 0.00003
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_025202.4(EFHD1):c.245C>T (p.Thr82Met) rs370357320 0.00003
NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln) rs760398912 0.00002
NM_012476.3(VAX2):c.398C>T (p.Thr133Ile) rs869025255 0.00002
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_005921.2(MAP3K1):c.1420A>G (p.Ile474Val) rs869025263 0.00001
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_001243332.2(SEZ6L2):c.323C>T (p.Thr108Ile) rs869025256
NM_001354604.2(MITF):c.736G>A (p.Asp246Asn) rs869025259
NM_002627.5(PFKP):c.740dup (p.Trp248fs) rs869025258
NM_003183.6(ADAM17):c.847C>T (p.Arg283Cys) rs869025265
NM_004189.4(SOX14):c.723del (p.Ter241TyrextTer?) rs869025252
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu) rs140505250
NM_004625.4(WNT7A):c.232C>T (p.Arg78Cys) rs756214872
NM_013435.3(RAX):c.*1371_*1372del rs543386393
NM_015662.3(IFT172):c.5133del (p.Trp1712fs) rs869025254
NM_017617.5(NOTCH1):c.68G>T (p.Arg23Leu) rs869025260
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_020366.4(RPGRIP1):c.2424C>G (p.Cys808Trp) rs869025257
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=)
NM_171999.4(SALL3):c.2254G>A (p.Val752Met) rs760494400
NM_173485.6(TSHZ2):c.1289A>T (p.Gln430Leu) rs778769992
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys) rs869025262
NM_183374.3(CYP26C1):c.1243C>G (p.His415Asp) rs869025253

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