ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome by Baylor Genetics

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu) rs1792148801
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg) rs1685785467
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093

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