ClinVar Miner

List of variants in gene COL2A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=) rs1441776862 0.00002
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
NM_001844.5(COL2A1):c.1365+19C>A
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) rs868417981
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) rs886044555
NM_001844.5(COL2A1):c.1680+2T>G rs1565681966
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) rs1555165494
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) rs2136526614
NM_001844.5(COL2A1):c.292+2T>A
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) rs2136522964
NM_001844.5(COL2A1):c.3887-2A>G rs2136508967
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) rs1592235241
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876

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