List of variants in gene COL2A1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)	rs145042175	0.00024
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp)	rs374082762	0.00010
NM_001844.5(COL2A1):c.1000C>T (p.Arg334Trp)	rs372264296	0.00003
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=)	rs555904044	0.00003
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His)	rs201953356	0.00002
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val)	rs556788032	0.00002
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met)	rs751036439	0.00001
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg)	rs1252045461	0.00001
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)	rs751436440	0.00001
NM_001844.5(COL2A1):c.3002C>T (p.Ser1001Leu)	rs765898571	0.00001
NM_001844.5(COL2A1):c.1541A>C (p.Asn514Thr)
NM_001844.5(COL2A1):c.2194G>C (p.Gly732Arg)	rs1221069783
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr)	rs760093841
NM_001844.5(COL2A1):c.4291T>C (p.Tyr1431His)	rs1938571833
NM_001844.5(COL2A1):c.4397C>T (p.Ala1466Val)
NM_001844.5(COL2A1):c.532-3C>A	rs755887776
NM_001844.5(COL2A1):c.623C>T (p.Pro208Leu)	rs1049536561
NM_001844.5(COL2A1):c.654+5G>T	rs2136618948

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