ClinVar Miner

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

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282
NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) rs1057518653

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