List of variants in gene COL11A1 reported as likely benign for Connective tissue disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)	rs75824519	0.01140
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)	rs74778421	0.00956
NM_001854.4(COL11A1):c.4140+10A>T	rs187171126	0.00906
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	rs150090939	0.00381
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=)	rs75915098	0.00345
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)	rs55821405	0.00284
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)	rs112577505	0.00251
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)	rs78046647	0.00233
NM_001854.4(COL11A1):c.3979-3T>C	rs138464908	0.00188
NM_001854.4(COL11A1):c.3277-13A>C	rs371455495	0.00116
NM_001854.4(COL11A1):c.3925-16C>T	rs201491791	0.00099
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)	rs141978499	0.00088
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)	rs147637674	0.00061
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile)	rs143159512	0.00030
NM_001854.4(COL11A1):c.898-15T>C	rs200242905	0.00024
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	rs143206624	0.00019
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)	rs55851925	0.00014
NM_001854.4(COL11A1):c.1630-13T>C	rs370547604	0.00014
NM_001854.4(COL11A1):c.1309-7G>A	rs748684225	0.00002
NM_001854.4(COL11A1):c.1899+16T>G	rs767808576	0.00001
NM_001854.4(COL11A1):c.2196+15C>T	rs768084384	0.00001
NM_001854.4(COL11A1):c.3493-17T>C	rs776451100	0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser)	rs778311240	0.00001
NM_001854.4(COL11A1):c.1945-7C>A	rs201424786
NM_001854.4(COL11A1):c.275-17del	rs3841819
NM_001854.4(COL11A1):c.4464+17G>A	rs970605834

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