ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000093.4(COL5A1):c.3762del (p.Gly1255Alafs) rs1057518653
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.3(PLOD1):c.1795delA (p.Ile599Leufs)
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.3(PLOD1):c.979C>T (p.Gln327Ter)
NM_019105.6(TNXB):c.9631A>G (p.Arg3211Gly) rs377386505
NM_019105.6(TNXB):c.9655G>A (p.Val3219Met) rs367685759

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