ClinVar Miner

List of variants studied for autosomal dominant optic atrophy by Mendelics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr) rs1064794656
NM_130837.3(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly) rs1313421147
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile) rs1577243012
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) rs1577244261
NM_130837.3(OPA1):c.1511del (p.Thr504fs) rs794729196
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs) rs1577297114
NM_130837.3(OPA1):c.2983+6T>A rs1577335678

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