ClinVar Miner

List of variants in gene COL9A2 reported as likely pathogenic for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001852.4(COL9A2):c.1774G>A (p.Gly592Ser) rs535212284 0.00001
NM_001852.4(COL9A2):c.1107+1G>T rs2124062571
NM_001852.4(COL9A2):c.1162G>A (p.Gly388Ser) rs775401012
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001852.4(COL9A2):c.1506del (p.Asn503fs) rs1040081238
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter) rs781682527

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