List of variants in gene COL9A2 reported by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)	rs3737821	0.06797
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=)	rs6676013	0.03985
NM_001852.4(COL9A2):c.1161+10T>A	rs117563156	0.02847
NM_001852.4(COL9A2):c.364-8C>T	rs11207843	0.02379
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)	rs2228565	0.02212
NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)	rs2229826	0.01771
NM_001852.4(COL9A2):c.955-4C>G	rs118135975	0.01678
NM_001852.4(COL9A2):c.1053+7C>T	rs79627294	0.00587
NM_001852.4(COL9A2):c.1870+9T>C	rs139929272	0.00406
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)	rs150075912	0.00242
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)	rs140041506	0.00230
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)	rs140697524	0.00205
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu)	rs199831035	0.00005
NM_001852.4(COL9A2):c.1604-26CTCC[4]	rs3831927
NM_001852.4(COL9A2):c.976_977inv (p.Gln326Trp)	rs137853213

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