ClinVar Miner

List of variants reported as pathogenic for Stickler syndrome by Baylor Genetics

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525

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