ClinVar Miner

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

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:137496881-137648441)
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000090.3(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1795del (p.Ile599fs) rs1557500194
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) rs1224538282
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759

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