ClinVar Miner

List of variants studied for anterior segment dysgenesis 7 by Genetics Department, University Hospital of Toulouse

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.1A>G (p.Met1Val) rs1387582423 0.00001
NM_012293.3(PXDN):c.2276C>T (p.Ser759Leu) rs200731840
NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg) rs1682948313
NM_012293.3(PXDN):c.2569del (p.Cys857fs) rs1408683917
NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer) rs1572110097
NM_012293.3(PXDN):c.693_697dup (p.Val233fs) rs1572153816

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