List of variants in gene COL2A1 reported as likely benign for Type II Collagenopathies

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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_001844.4(COL2A1):c.-187G>A	rs41317877	0.02510
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	rs41263847	0.00073
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)	rs35012272	0.00058
NM_001844.5(COL2A1):c.*28C>T	rs41272775	0.00051
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)	rs145042175	0.00024
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)	rs201646745	0.00016
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	rs199726428	0.00006
NM_001844.5(COL2A1):c.1680+8G>T	rs754310324	0.00005
NM_001844.5(COL2A1):c.1680+9C>A	rs371857655	0.00005
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)	rs376753701	0.00003
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)	rs756360655	0.00002
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)	rs751436440	0.00001
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)	rs374156023	0.00001
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)	rs202105427	0.00001
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)	rs202002349

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