ClinVar Miner

Variants in gene COL2A1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) rs754466377
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543

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