ClinVar Miner

List of variants reported as pathogenic for congenital vitreoretinal dysplasia by Counsyl

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) rs386834015
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247

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