ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759

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