ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003106.4(SOX2):c.53C>A (p.Ser18Ter) rs750091101 0.00001
NC_000003.12:g.(?_181712341)_(181874887_?)del
NM_003106.4(SOX2):c.142_144del (p.Phe48del)
NM_003106.4(SOX2):c.157dup (p.Arg53fs) rs1553862958
NM_003106.4(SOX2):c.175del (p.Met59fs) rs2108521702
NM_003106.4(SOX2):c.244_245del (p.Leu82fs) rs1553862971
NM_003106.4(SOX2):c.256G>T (p.Glu86Ter)
NM_003106.4(SOX2):c.25del (p.Glu8_Leu9insTer)
NM_003106.4(SOX2):c.310G>T (p.Glu104Ter) rs1260218988
NM_003106.4(SOX2):c.328_329del (p.Tyr110fs)
NM_003106.4(SOX2):c.337C>T (p.Arg113Trp) rs1560264395
NM_003106.4(SOX2):c.384del (p.Gly129fs)
NM_003106.4(SOX2):c.388_391del (p.Gly130fs) rs1714851160
NM_003106.4(SOX2):c.3dup (p.Tyr2fs) rs1714833474
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003106.4(SOX2):c.480del (p.Ser159_Tyr160insTer)
NM_003106.4(SOX2):c.497G>A (p.Trp166Ter) rs2108522646
NM_003106.4(SOX2):c.537_538insGGGTA (p.Tyr180fs) rs2108522776
NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter) rs771521201
NM_003106.4(SOX2):c.67_89dup (p.Gly31fs) rs1560264167
NM_003106.4(SOX2):c.70_89del (p.Asn24fs) rs398123693
NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) rs1560264973

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