ClinVar Miner

List of variants reported as pathogenic for obsolete anophthalmia-microphthalmia syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg) rs869025269 0.00001
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) rs755799430 0.00001
NC_000014.8:g.(?_57268453)_(57272174_?)del
NC_000014.8:g.(?_57268453)_(57272174_?)dup
NC_000014.8:g.(?_57270959)_(57274875_?)del
NC_000014.9:g.(?_56801715)_(56804383_?)del
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_021728.4(OTX2):c.130del (p.Arg44fs) rs758119168
NM_021728.4(OTX2):c.150del (p.Thr51fs)
NM_021728.4(OTX2):c.190_191del (p.Leu64fs)
NM_021728.4(OTX2):c.316C>T (p.Gln106Ter)
NM_021728.4(OTX2):c.363del (p.Lys122fs)
NM_021728.4(OTX2):c.444dup (p.Thr149fs) rs2139528859
NM_021728.4(OTX2):c.479G>A (p.Trp160Ter)
NM_021728.4(OTX2):c.516del (p.Leu172fs)
NM_021728.4(OTX2):c.546_553del (p.Tyr183fs) rs2139528560
NM_021728.4(OTX2):c.565C>T (p.Gln189Ter)
NM_021728.4(OTX2):c.586G>T (p.Gly196Ter) rs397514463
NM_021728.4(OTX2):c.596del (p.Gly199fs) rs1891902224
NM_021728.4(OTX2):c.632C>A (p.Ser211Ter) rs1891900408
NM_021728.4(OTX2):c.655C>T (p.Gln219Ter)
NM_021728.4(OTX2):c.658_659delinsG (p.Leu220fs) rs1566622642
NM_021728.4(OTX2):c.721C>T (p.Gln241Ter)
NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) rs372931895
NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) rs144691445
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs) rs1555350223
NM_182894.3(VSX2):c.71dup (p.Ala25fs) rs869025268

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