ClinVar Miner

List of variants studied for hereditary optic atrophy by GenomeConnect, ClinGen

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NC_012920.1(MT-ATP6):m.8686T>C rs1569484231
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.2873_2876del rs80356530

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