List of variants in gene COL11A1 reported as likely benign for Fibrochondrogenesis 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)	rs55821405	0.00284
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)	rs145901197	0.00274
NM_001854.4(COL11A1):c.3873A>C (p.Gly1291=)	rs149367044	0.00257
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)	rs112577505	0.00251
NM_001854.4(COL11A1):c.3925-11C>T	rs192518657	0.00213
NM_001854.4(COL11A1):c.3384+13T>G	rs201970483	0.00210
NM_001854.4(COL11A1):c.3979-3T>C	rs138464908	0.00188
NM_001854.4(COL11A1):c.*1091A>T	rs41292523	0.00185
NM_001854.4(COL11A1):c.3024+13T>C	rs201141572	0.00172
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=)	rs148395062	0.00161
NM_001854.4(COL11A1):c.*687C>T	rs186072680	0.00032
NM_001854.4(COL11A1):c.4140+13del	rs781736900	0.00012
NM_001854.4(COL11A1):c.-188G>A	rs372541219	0.00001
NM_001854.4(COL11A1):c.3789A>G (p.Pro1263=)	rs144729226
NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=)	rs532113782

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