ClinVar Miner

List of variants reported as likely pathogenic for canthal anomaly by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502

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