ClinVar Miner

List of variants reported as not provided for anterior segment dysgenesis

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217

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