ClinVar Miner

Variants in gene COL11A2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter) rs1206475365 0.00001
NM_080680.3(COL11A2):c.1019dup (p.Pro340_Glu341insTer)
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter) rs1417182811
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter) rs374156844
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs)
NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter) rs764450149
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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