ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome by Clinical Genetics Group,University of Otago

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) rs1557179325
NM_001110556.2(FLNA):c.2280+389T>A rs1557178535
NM_001110556.2(FLNA):c.82A>G (p.Met28Val) rs1557180226
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536

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