ClinVar Miner

List of variants in gene COL9A1 reported as likely pathogenic for not provided

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.1411C>T (p.Arg471Ter) rs745532481 0.00001
NM_001851.6(COL9A1):c.1665+2T>C rs759460647 0.00001
NM_001851.6(COL9A1):c.88+1G>A rs377760437 0.00001
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter) rs201035486
NM_001851.6(COL9A1):c.1066-1G>T
NM_001851.6(COL9A1):c.1143+1G>A rs1490405035
NM_001851.6(COL9A1):c.1198-1G>C
NM_001851.6(COL9A1):c.1266T>A (p.Tyr422Ter) rs868122313
NM_001851.6(COL9A1):c.1287+2T>C
NM_001851.6(COL9A1):c.14+1G>C
NM_001851.6(COL9A1):c.15-2A>T
NM_001851.6(COL9A1):c.1708C>T (p.Gln570Ter) rs1562305261
NM_001851.6(COL9A1):c.171del (p.Phe57fs) rs1554248926
NM_001851.6(COL9A1):c.1720-2A>G
NM_001851.6(COL9A1):c.1927-1G>A
NM_001851.6(COL9A1):c.1965dup (p.Pro656fs) rs1064797325
NM_001851.6(COL9A1):c.1970dup (p.Gly658fs) rs1322800124
NM_001851.6(COL9A1):c.2034+1G>C
NM_001851.6(COL9A1):c.2260-1G>A rs1322829123
NM_001851.6(COL9A1):c.2260-2A>G
NM_001851.6(COL9A1):c.2315-2A>G
NM_001851.6(COL9A1):c.717_781-267del
NM_001851.6(COL9A1):c.781-1G>C
NM_001851.6(COL9A1):c.877-1G>T
NM_001851.6(COL9A1):c.902dup (p.Pro306fs) rs771382737
NM_001851.6(COL9A1):c.913-2A>C

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