ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 36
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HGVS dbSNP
NM_001844.4(COL2A1):c.-187G>A rs41317877
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224
NM_001844.5(COL2A1):c.1366-13C>A rs200984998
NM_001844.5(COL2A1):c.1581+16G>A rs182598943
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851
NM_001844.5(COL2A1):c.2095-4G>A rs111570218
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.3003+9G>A rs200403247
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001844.5(COL2A1):c.3327+3G>A rs192229438
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) rs745633496
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.5(COL2A1):c.4074+12G>T
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.5(COL2A1):c.708+8C>T rs41317893
NM_001844.5(COL2A1):c.709-8G>T rs200757693
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543
NM_001844.5(COL2A1):c.85+10C>G rs769941617

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