ClinVar Miner

Variants in gene COL2A1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) rs1555166528
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001844.5(COL2A1):c.762+1G>A rs794727026

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