ClinVar Miner

List of variants studied for anterior segment dysgenesis 8 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015692.5(CPAMD8):c.1759-1G>A
NM_015692.5(CPAMD8):c.4396del (p.Gln1466fs)
NM_015692.5(CPAMD8):c.4710T>A (p.Asn1570Lys)

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