ClinVar Miner

List of variants reported as pathogenic for anophthalmia/microphthalmia-esophageal atresia syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.53C>A (p.Ser18Ter) rs750091101 0.00001
GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1
GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1
GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1
GRCh37/hg19 3q27.1(chr3:182871341-182987855)x1
GRCh37/hg19 3q27.1(chr3:182902731-182945128)x1
NC_000003.11:g.(?_180702428)_(181592675_?)del
NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del
NC_000003.12:g.(?_181712341)_(181874887_?)del
NM_003106.4(SOX2):c.-13_43del (p.Met1fs) rs1714831656
NM_003106.4(SOX2):c.131C>G (p.Pro44Arg) rs1714842576
NM_003106.4(SOX2):c.138T>G (p.Asn46Lys) rs104893806
NM_003106.4(SOX2):c.142_144del (p.Phe48del)
NM_003106.4(SOX2):c.143_144delinsAA (p.Phe48Ter) rs398122915
NM_003106.4(SOX2):c.157dup (p.Arg53fs) rs1553862958
NM_003106.4(SOX2):c.163C>T (p.Gln55Ter) rs104893804
NM_003106.4(SOX2):c.166C>G (p.Arg56Gly) rs1560264293
NM_003106.4(SOX2):c.16G>T (p.Glu6Ter) rs1273721978
NM_003106.4(SOX2):c.175del (p.Met59fs) rs2108521702
NM_003106.4(SOX2):c.221G>C (p.Arg74Pro) rs104893805
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter) rs1208628241
NM_003106.4(SOX2):c.244_245del (p.Leu82fs) rs1553862971
NM_003106.4(SOX2):c.245T>A (p.Leu82Ter) rs387906688
NM_003106.4(SOX2):c.248C>A (p.Ser83Ter) rs104893801
NM_003106.4(SOX2):c.256G>T (p.Glu86Ter)
NM_003106.4(SOX2):c.25del (p.Glu8_Leu9insTer)
NM_003106.4(SOX2):c.277G>T (p.Glu93Ter) rs104893800
NM_003106.4(SOX2):c.290T>C (p.Leu97Pro) rs104893802
NM_003106.4(SOX2):c.310G>T (p.Glu104Ter) rs1260218988
NM_003106.4(SOX2):c.328_329del (p.Tyr110fs)
NM_003106.4(SOX2):c.329A>C (p.Tyr110Ser) rs2108522189
NM_003106.4(SOX2):c.337C>T (p.Arg113Trp) rs1560264395
NM_003106.4(SOX2):c.384del (p.Gly129fs)
NM_003106.4(SOX2):c.385_386del (p.Gly129fs) rs1560264452
NM_003106.4(SOX2):c.388_391del (p.Gly130fs) rs1714851160
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003106.4(SOX2):c.3dup (p.Tyr2fs) rs1714833474
NM_003106.4(SOX2):c.402del (p.Gly135fs) rs761248518
NM_003106.4(SOX2):c.463C>T (p.Gln155Ter) rs104893803
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003106.4(SOX2):c.480del (p.Ser159_Tyr160insTer)
NM_003106.4(SOX2):c.486_487dup (p.Met163fs) rs1714858949
NM_003106.4(SOX2):c.497G>A (p.Trp166Ter) rs2108522646
NM_003106.4(SOX2):c.498G>A (p.Trp166Ter) rs2108522652
NM_003106.4(SOX2):c.513_514dup (p.Ser172fs)
NM_003106.4(SOX2):c.529C>T (p.Gln177Ter) rs104893799
NM_003106.4(SOX2):c.537_538insGGGTA (p.Tyr180fs) rs2108522776
NM_003106.4(SOX2):c.538_542dup (p.Gln182fs) rs1714861042
NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter) rs771521201
NM_003106.4(SOX2):c.542del (p.Pro181fs) rs1714861435
NM_003106.4(SOX2):c.551del (p.Pro184fs) rs587776776
NM_003106.4(SOX2):c.554del (p.Gly185fs)
NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) rs1714864777
NM_003106.4(SOX2):c.58_59delinsT (p.Gly20fs) rs1714837282
NM_003106.4(SOX2):c.58_59dup (p.Gly21fs) rs398122803
NM_003106.4(SOX2):c.59del (p.Gly20fs) rs398122803
NM_003106.4(SOX2):c.59dup (p.Gly21fs) rs398122803
NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) rs1714865486
NM_003106.4(SOX2):c.621C>A (p.Tyr207Ter)
NM_003106.4(SOX2):c.67_89del (p.Gly23fs)
NM_003106.4(SOX2):c.67_89dup (p.Gly31fs) rs1560264167
NM_003106.4(SOX2):c.70_86del (p.Asn24fs) rs1553862927
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003106.4(SOX2):c.764_767dup (p.Ser257fs) rs2108523389
NM_003106.4(SOX2):c.828del (p.Met276fs) rs1714875635
NM_003106.4(SOX2):c.837del (p.Gly280fs) rs398122916
NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) rs1560264973
NM_003106.4(SOX2):c.87_96dup (p.Asn33fs) rs1714839412
NM_003106.4(SOX2):c.921_930del (p.Ile308fs) rs1714882477
NM_003106.4(SOX2):c.935_936del (p.Leu312fs)
NM_003106.4(SOX2):c.941del (p.Leu314fs) rs1714883776
NM_003106.4(SOX2):c.943_944del (p.Ser315fs) rs1714883683
t(3;11)(q27;p11.2)

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