ClinVar Miner

List of variants studied for Knobloch syndrome by Yale Center for Mendelian Genomics, Yale University

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.1070dup (p.Gly358fs) rs1555860555
NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs) rs1602651770
NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs) rs1555877107

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