ClinVar Miner

List of variants reported as likely pathogenic for canthal anomaly by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001145468.3(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) rs1601294872

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