List of variants in gene COL2A1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1941+18C>T	rs753819738	0.00001
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)	rs779252535	0.00001
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)	rs1057518908
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs)	rs1939177362
NM_001844.5(COL2A1):c.2355+1G>A	rs1939124946
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)	rs121912882
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val)	rs765795867
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser)	rs1555165245
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg)	rs1057518911
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp)	rs1347381176

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