ClinVar Miner

List of variants reported as likely benign for anterior segment dysgenesis by Paul Sabatier University EA-4555, Paul Sabatier University

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile) rs200828005 0.00078
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala) rs200221425 0.00049
NM_025074.7(FRAS1):c.3700G>A (p.Ala1234Thr) rs199940702 0.00015
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile) rs150803261 0.00009
NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg) rs746363033 0.00002
NM_000966.6(RARG):c.245C>T (p.Pro82Leu) rs769476878 0.00001
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg) rs869025266 0.00001
NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn) rs754847137
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe) rs869025267
NM_024533.4(CHST5):c.737T>C (p.Ile246Thr) rs869025261

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