ClinVar Miner

List of variants studied for anophthalmia/microphthalmia-esophageal atresia syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.453G>A (p.Ala151=) rs74480245 0.00491
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00166
NM_003106.4(SOX2):c.561T>C (p.Asn187=) rs147606682 0.00028
NM_003106.4(SOX2):c.651G>T (p.Met217Ile) rs199887134 0.00021
NC_000003.12:g.181712424G>A rs727504169 0.00014
NM_003106.4(SOX2):c.869G>C (p.Ser290Thr) rs779686992 0.00014
NM_003106.4(SOX2):c.243T>G (p.Leu81=) rs141391454 0.00013
NM_003106.4(SOX2):c.54G>C (p.Ser18=) rs757913217 0.00013
NM_003106.4(SOX2):c.571G>A (p.Ala191Thr) rs104893808 0.00013
NM_003106.4(SOX2):c.231C>A (p.Ala77=) rs201190086 0.00011
NM_003106.4(SOX2):c.397G>A (p.Ala133Thr) rs377110178 0.00006
NM_003106.4(SOX2):c.840C>G (p.Gly280=) rs767686608 0.00006
NM_003106.4(SOX2):c.33G>T (p.Pro11=) rs771068335 0.00005
NM_003106.4(SOX2):c.540C>T (p.Tyr180=) rs771521201 0.00004
NM_003106.4(SOX2):c.45G>A (p.Gln15=) rs776333710 0.00002
NM_003106.4(SOX2):c.76A>G (p.Thr26Ala) rs749464287 0.00002
NM_003106.4(SOX2):c.254C>T (p.Thr85Met) rs1007978252 0.00001
NM_003106.4(SOX2):c.429C>A (p.Val143=) rs753192651 0.00001
NM_003106.4(SOX2):c.53C>A (p.Ser18Ter) rs750091101 0.00001
NM_003106.4(SOX2):c.560A>G (p.Asn187Ser) rs1394727952 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.100C>T (p.Gln34Ter) rs1714841256
NM_003106.4(SOX2):c.113C>T (p.Pro38Leu) rs2108521561
NM_003106.4(SOX2):c.131C>G (p.Pro44Arg) rs1714842576
NM_003106.4(SOX2):c.137A>G (p.Asn46Ser)
NM_003106.4(SOX2):c.138T>G (p.Asn46Lys) rs104893806
NM_003106.4(SOX2):c.142T>G (p.Phe48Val)
NM_003106.4(SOX2):c.142_144del (p.Phe48del)
NM_003106.4(SOX2):c.143T>C (p.Phe48Ser) rs1714843059
NM_003106.4(SOX2):c.143_144delinsAA (p.Phe48Ter) rs398122915
NM_003106.4(SOX2):c.150G>A (p.Val50=) rs145732415
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.166C>T (p.Arg56Trp) rs1560264293
NM_003106.4(SOX2):c.167G>C (p.Arg56Pro)
NM_003106.4(SOX2):c.16G>T (p.Glu6Ter) rs1273721978
NM_003106.4(SOX2):c.175del (p.Met59fs) rs2108521702
NM_003106.4(SOX2):c.203A>G (p.Asn68Ser)
NM_003106.4(SOX2):c.21G>C (p.Thr7=)
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.241del (p.Leu81fs)
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.255G>A (p.Thr85=)
NM_003106.4(SOX2):c.256G>T (p.Glu86Ter)
NM_003106.4(SOX2):c.25del (p.Glu8_Leu9insTer)
NM_003106.4(SOX2):c.266C>A (p.Pro89Gln)
NM_003106.4(SOX2):c.277G>T (p.Glu93Ter) rs104893800
NM_003106.4(SOX2):c.287G>C (p.Arg96Pro) rs1714847764
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.330C>G (p.Tyr110Ter) rs2108522196
NM_003106.4(SOX2):c.337C>T (p.Arg113Trp) rs1560264395
NM_003106.4(SOX2):c.348C>A (p.Thr116=)
NM_003106.4(SOX2):c.36G>C (p.Pro12=)
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>A (p.Gly130Glu)
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003106.4(SOX2):c.398C>G (p.Ala133Gly)
NM_003106.4(SOX2):c.39C>A (p.Gly13=)
NM_003106.4(SOX2):c.3dup (p.Tyr2fs) rs1714833474
NM_003106.4(SOX2):c.402del (p.Gly135fs) rs761248518
NM_003106.4(SOX2):c.423C>T (p.Ser141=)
NM_003106.4(SOX2):c.424G>C (p.Gly142Arg) rs1560264525
NM_003106.4(SOX2):c.441C>T (p.Ala147=)
NM_003106.4(SOX2):c.453G>C (p.Ala151=)
NM_003106.4(SOX2):c.462C>A (p.Asn154Lys)
NM_003106.4(SOX2):c.463C>T (p.Gln155Ter) rs104893803
NM_003106.4(SOX2):c.468C>T (p.Arg156=) rs2108522598
NM_003106.4(SOX2):c.474C>G (p.Asp158Glu)
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.487A>G (p.Met163Val)
NM_003106.4(SOX2):c.492C>T (p.Asn164=)
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.505G>A (p.Gly169Ser)
NM_003106.4(SOX2):c.506G>A (p.Gly169Asp)
NM_003106.4(SOX2):c.513_514dup (p.Ser172fs)
NM_003106.4(SOX2):c.529C>T (p.Gln177Ter) rs104893799
NM_003106.4(SOX2):c.52_53delinsAA (p.Ser18Lys)
NM_003106.4(SOX2):c.536G>T (p.Gly179Val)
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.544C>T (p.Gln182Ter)
NM_003106.4(SOX2):c.551del (p.Pro184fs) rs587776776
NM_003106.4(SOX2):c.552G>A (p.Pro184=)
NM_003106.4(SOX2):c.554del (p.Gly185fs)
NM_003106.4(SOX2):c.555C>A (p.Gly185=)
NM_003106.4(SOX2):c.573A>G (p.Ala191=)
NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) rs1714864777
NM_003106.4(SOX2):c.589A>G (p.Met197Val) rs1438385283
NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup) rs1560264163
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.591G>A (p.Met197Ile)
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.600C>T (p.Tyr200=)
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.68G>T (p.Gly23Val)
NM_003106.4(SOX2):c.694A>G (p.Thr232Ala)
NM_003106.4(SOX2):c.69C>G (p.Gly23=)
NM_003106.4(SOX2):c.700G>A (p.Gly234Ser)
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.70_89dup (p.Gly31fs)
NM_003106.4(SOX2):c.742G>T (p.Ala248Ser)
NM_003106.4(SOX2):c.758del (p.Pro253fs)
NM_003106.4(SOX2):c.764_767dup (p.Ser257fs) rs2108523389
NM_003106.4(SOX2):c.775_778del (p.Ser259fs)
NM_003106.4(SOX2):c.790C>A (p.Pro264Thr)
NM_003106.4(SOX2):c.819G>C (p.Met273Ile)
NM_003106.4(SOX2):c.81G>C (p.Ala27=)
NM_003106.4(SOX2):c.81GGC[4] (p.Ala30_Gly31insAla)
NM_003106.4(SOX2):c.828G>C (p.Met276Ile)
NM_003106.4(SOX2):c.828del (p.Met276fs) rs1714875635
NM_003106.4(SOX2):c.837C>T (p.Pro279=)
NM_003106.4(SOX2):c.837del (p.Gly280fs) rs398122916
NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) rs1560264973
NM_003106.4(SOX2):c.842C>G (p.Ala281Gly)
NM_003106.4(SOX2):c.843C>T (p.Ala281=)
NM_003106.4(SOX2):c.849G>A (p.Val283=)
NM_003106.4(SOX2):c.852G>A (p.Pro284=)
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) rs760688357
NM_003106.4(SOX2):c.85G>A (p.Ala29Thr)
NM_003106.4(SOX2):c.861C>G (p.Ala287=) rs199971071
NM_003106.4(SOX2):c.861C>T (p.Ala287=) rs199971071
NM_003106.4(SOX2):c.87_96dup (p.Asn33fs) rs1714839412
NM_003106.4(SOX2):c.890A>G (p.His297Arg) rs1338979266
NM_003106.4(SOX2):c.909G>C (p.Val303=)
NM_003106.4(SOX2):c.912C>T (p.Pro304=)
NM_003106.4(SOX2):c.921_930del (p.Ile308fs) rs1714882477
NM_003106.4(SOX2):c.92G>T (p.Gly31Val)
NM_003106.4(SOX2):c.933A>T (p.Thr311=)
NM_003106.4(SOX2):c.935_936del (p.Leu312fs)
NM_003106.4(SOX2):c.936G>A (p.Leu312=)
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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