ClinVar Miner

List of variants reported as pathogenic for aniridia by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs) rs1554985737
NM_001368894.2(PAX6):c.1225+1G>A rs1554982537
NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs) rs1554985378
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) rs1554985305
NM_001368894.2(PAX6):c.3G>T (p.Met1Ile) rs1554986754
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter) rs1554983571
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter) rs1554983229

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