ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Knight Diagnostic Laboratories,Oregon Health and Sciences University

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_000090.3(COL3A1):c.1235C>T (p.Ala412Val) rs1057519250
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222

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