ClinVar Miner

List of variants in gene COL9A3 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.183+4A>C rs1555821817
NM_001853.4(COL9A3):c.184-2A>G rs1991037713
NM_001853.4(COL9A3):c.433G>T (p.Gly145Ter)
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042

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