ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, type 4 by Invitae

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Total variants: 24
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HGVS dbSNP
NM_000090.3(COL3A1):c.1128C>T (p.His376=) rs771015742
NM_000090.3(COL3A1):c.1335A>G (p.Pro445=) rs1193108024
NM_000090.3(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.3(COL3A1):c.1584C>T (p.Gly528=) rs946270867
NM_000090.3(COL3A1):c.1617C>A (p.Pro539=) rs141091206
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1716A>C (p.Arg572=) rs751916055
NM_000090.3(COL3A1):c.1870-9C>T rs777339506
NM_000090.3(COL3A1):c.1980T>C (p.Gly660=) rs1553508597
NM_000090.3(COL3A1):c.204C>T (p.Asp68=) rs368299739
NM_000090.3(COL3A1):c.2199T>C (p.Gly733=) rs762547633
NM_000090.3(COL3A1):c.2238A>G (p.Pro746=) rs1311262989
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2733T>C (p.Thr911=) rs138961881
NM_000090.3(COL3A1):c.2913T>G (p.Pro971=) rs367872728
NM_000090.3(COL3A1):c.3066A>G (p.Pro1022=) rs756680770
NM_000090.3(COL3A1):c.3375T>C (p.Gly1125=) rs1355734194
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4038T>C (p.Pro1346=) rs113753099
NM_000090.3(COL3A1):c.4332T>C (p.Ile1444=) rs1285255181
NM_000090.3(COL3A1):c.582+10G>A rs1553507200
NM_000090.3(COL3A1):c.621G>A (p.Gly207=) rs779352711
NM_000090.3(COL3A1):c.873C>A (p.Gly291=) rs138569287

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