ClinVar Miner

List of variants reported as pathogenic for aniridia 1 by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-129+2T>A rs878852979
NM_001368894.2(PAX6):c.1075-2A>G rs794726661
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) rs397514640
NM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg) rs1131692318
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) rs121907914
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.448C>T (p.Gln150Ter) rs121907912
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.725-6T>A
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001368894.2(PAX6):c.767G>C (p.Arg256Thr) rs121907927
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly) rs121907913
NM_001368894.2(PAX6):c.813G>A (p.Trp271Ter) rs121907929
NM_001368894.2(PAX6):c.889_890dup (p.Ser297fs) rs1565200471
NM_019040.5(ELP4):c.1143+14176C>A rs606231388

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