List of variants in gene COL11A1 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)	rs1676486	0.81716
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)	rs1763347	0.64340
NM_001854.4(COL11A1):c.2611-19A>C	rs11164649	0.57301
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)	rs3753841	0.50032
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)	rs2229783	0.49335
NM_001854.4(COL11A1):c.275-7T>C	rs12136865	0.14046
NM_001854.4(COL11A1):c.4608+18A>G	rs17127203	0.12045
NM_001854.4(COL11A1):c.660T>C (p.Ile220=)	rs71664966	0.11088
NM_001854.4(COL11A1):c.1998+4T>A	rs12136577	0.10860
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu)	rs11164663	0.08714
NM_001854.4(COL11A1):c.1308+19A>G	rs34587338	0.08015
NM_001854.4(COL11A1):c.3168+15A>G	rs1012281	0.05717
NM_001854.4(COL11A1):c.2043+8G>A	rs2622875	0.04635
NM_001854.4(COL11A1):c.1413+18A>T	rs17461252	0.04131
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)	rs111841420	0.02418
NM_001854.4(COL11A1):c.1944+11T>C	rs71664954	0.02235
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)	rs141548164	0.00498
NM_001854.4(COL11A1):c.4140+13T>A	rs374901069	0.00214
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)	rs144884147	0.00098
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	rs200496207	0.00026
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)	rs367824632	0.00021
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)	rs558548172	0.00004
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)	rs17127270
NM_001854.4(COL11A1):c.3816+1G>C	rs398122828
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)	rs1672165764

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