ClinVar Miner

List of variants reported as likely pathogenic for Stickler syndrome type 1 by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001844.4(COL2A1):c.971delG rs1555168309
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295

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