ClinVar Miner

Variants in gene COL5A2 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: 23
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001

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