ClinVar Miner

List of variants in gene STRA6 reported as pathogenic for obsolete anophthalmia-microphthalmia syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg) rs869025269 0.00001
NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) rs372931895
NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) rs144691445

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