List of variants in gene COL11A1 reported as uncertain significance 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)	rs78046647	0.00233
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)	rs141978499	0.00088
NM_001854.4(COL11A1):c.*9C>G	rs371551881	0.00007
NM_001854.4(COL11A1):c.2916+3A>G	rs200515572	0.00004
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)	rs141304474	0.00003
NM_001854.4(COL11A1):c.1350+11G>A	rs747505977	0.00002
NM_001854.4(COL11A1):c.4300A>G (p.Met1434Val)	rs772950506	0.00002
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser)	rs377036654	0.00002
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)	rs762727530	0.00001
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu)	rs1308067070	0.00001
NM_001854.4(COL11A1):c.2610+9T>C	rs754222130	0.00001
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)	rs368422725	0.00001
NM_001854.4(COL11A1):c.2990G>A (p.Gly997Asp)	rs772357889	0.00001
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)	rs748315186	0.00001
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly)	rs771139447
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu)	rs1252968708
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg)	rs141978499

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