ClinVar Miner

List of variants in gene COL1A2 reported as benign for Ehlers-Danlos syndrome

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000089.3(COL1A2):c.*194C>T rs1060399
NM_000089.3(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1383C>T (p.Pro461=) rs139726213
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.3(COL1A2):c.1665+15A>G rs421587
NM_000089.3(COL1A2):c.1878G>T (p.Val626=) rs1800238
NM_000089.3(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460
NM_000089.3(COL1A2):c.2274C>T (p.Pro758=) rs541912705
NM_000089.3(COL1A2):c.2400C>T (p.Pro800=) rs139913150
NM_000089.3(COL1A2):c.246T>C (p.Asp82=) rs1800222
NM_000089.3(COL1A2):c.2700C>T (p.Ala900=) rs141688356
NM_000089.3(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3585T>C (p.Cys1195=) rs1800253
NM_000089.3(COL1A2):c.3849T>C (p.Thr1283=) rs34038163
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.52T>G (p.Cys18Gly) rs200278401
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.87T>C (p.Thr29=) rs1801182
NM_000089.3(COL1A2):c.936+14C>T rs42518
NM_000089.3(COL1A2):c.937-3C>T rs42519
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.3(COL1A2):c.975A>T (p.Gly325=) rs148063325
NM_000089.3(COL1A2):c.981C>T (p.Arg327=) rs141762645

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