ClinVar Miner

List of variants studied for optic atrophy by Laboratory of Prof. Karen Avraham, Tel Aviv University

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala) rs756981921 0.00003
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001

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