List of variants in gene COL11A1 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.2043+8G>A	rs2622875	0.04635
NM_001854.4(COL11A1):c.3708+414C>T	rs115516103	0.03151
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)	rs111841420	0.02418
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala)	rs139064549	0.00897
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)	rs141548164	0.00498
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)	rs78046647	0.00233
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)	rs114630202	0.00174
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu)	rs769308801	0.00001
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_001854.4(COL11A1):c.4313G>C (p.Gly1438Ala)

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