ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Institute of Human Genetics,Cologne University

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000090.3(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro854_Gly855insLeuGlyValLysGlyGluArgGlySer) rs1135402747
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
NM_001367624.1(ZNF469):c.11821A>C (p.Thr3941Pro) rs1555520642

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