ClinVar Miner

List of variants in gene COL5A2 reported as benign for Ehlers-Danlos syndrome, classic type

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Total variants: 37
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HGVS dbSNP
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.1716+9A>G rs201934598
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.5(COL5A2):c.2716-4C>T rs111644889
NM_000393.5(COL5A2):c.2770-5A>G rs370313198
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474

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