ClinVar Miner

List of variants studied for PAX6-related ocular dysgenesis by Rare Disease Group, Clinical Genetics, Karolinska Institutet

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro) rs201284617 0.00236
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885 0.00161
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) rs753221661 0.00006
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr) rs762408881
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser) rs1555303073
Single allele

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