List of variants in gene COL11A2 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C	rs3129201	0.99999
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)	rs2229785	0.78559
NM_080680.3(COL11A2):c.3150+15A>C	rs2855436	0.77853
NM_080680.3(COL11A2):c.3313-11C>T	rs2855437	0.73560
NM_080680.3(COL11A2):c.2628+3G>A	rs970901	0.57903
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)	rs1799910	0.50179
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=)	rs1799908	0.46292
NM_080680.3(COL11A2):c.877-4T>A	rs1799907	0.31476
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)	rs1799911	0.22509
NM_080680.3(COL11A2):c.1179+10G>A	rs2744507	0.09775
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu)	rs2855430	0.09772
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	rs2229792	0.01881
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)	rs41266697	0.00686
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)	rs114580597	0.00182
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)	rs34055850	0.00113
NM_080680.3(COL11A2):c.1612-10G>C	rs182657680	0.00112
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)	rs151098305	0.00052
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)	rs147927477	0.00031
NM_080680.3(COL11A2):c.5071-7C>G	rs200548977	0.00010
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)	rs371864924	0.00006
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)	rs145871842	0.00006
NM_080680.3(COL11A2):c.622C>T (p.Leu208=)	rs200272494	0.00004
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)	rs199866657
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)	rs146093235
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)	rs374515005
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	rs748440351

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