ClinVar Miner

Variants in gene COL9A3 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: 31
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_001853.4(COL9A3):c.779C>T (p.Ala260Val) rs147134081 0.00031
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu) rs138648117 0.00029
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro) rs145821912 0.00028
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro) rs199886210 0.00021
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr) rs150207068 0.00019
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln) rs140377811 0.00016
NM_001853.4(COL9A3):c.763C>T (p.Pro255Ser) rs201294093 0.00016
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser) rs374503994 0.00014
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp) rs201783992 0.00013
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr) rs758064613 0.00013
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn) rs200153638 0.00010
NM_001853.4(COL9A3):c.332C>T (p.Pro111Leu) rs368744467 0.00008
NM_001853.4(COL9A3):c.931G>A (p.Val311Met) rs546308741 0.00008
NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr) rs190167637 0.00007
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His) rs201219004 0.00006
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.1282G>A (p.Asp428Asn) rs562245450 0.00002
NM_001853.4(COL9A3):c.1009-12C>A rs752646714 0.00001
NM_001853.4(COL9A3):c.1054-12C>T rs1462378174 0.00001
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00001
NM_001853.4(COL9A3):c.519+6C>T rs1273555684 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001853.4(COL9A3):c.182C>T (p.Pro61Leu) rs149582526
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro) rs150885737
NM_001853.4(COL9A3):c.846C>T (p.Leu282=)

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