ClinVar Miner

Variants in gene COL11A2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1720-4G>T rs369678506
NM_080680.3(COL11A2):c.2017-5T>G rs200523422
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.3(COL11A2):c.233-8G>T rs375268140
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080680.3(COL11A2):c.3583-3C>T rs727502939
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513
NM_080680.3(COL11A2):c.4863+7G>A rs200947059
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp) rs534700620
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu) rs201399429

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