ClinVar Miner

List of variants reported as pathogenic for obsolete anophthalmia-microphthalmia syndrome by Paul Sabatier University EA-4555, Paul Sabatier University

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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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
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) rs372931895
NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) rs144691445
NM_182894.3(VSX2):c.71dup (p.Ala25fs) rs869025268

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