ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (12):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.(?_134834951)_(134835224_?)del
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg) rs1838935159
NM_000093.5(COL5A1):c.4554+1G>C rs1564482508
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs) rs1839191116
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
NM_000093.5(COL5A1):c.4955-1G>C
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
NM_000093.5(COL5A1):c.5067+1G>A rs1839245948
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT rs1839542247
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC rs1839537297
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246

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