ClinVar Miner

List of variants reported as likely pathogenic for Ehlers-Danlos syndrome, classic type

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Total variants: 22
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HGVS dbSNP
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137726797)_(137727070_?)del
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2700+2T>C
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.4(COL5A1):c.4554+1G>C rs1564482508
NM_000093.4(COL5A1):c.5204G>A (p.Ser1735Asn)
NM_000093.4(COL5A1):c.655-1917_690del
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) rs1559085564
NM_000393.5(COL5A2):c.1977+1G>A
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=) rs863223491
NM_000393.5(COL5A2):c.3309+1G>A rs1553513657
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000393.5(COL5A2):c.369+1G>T rs1559104199
NM_001278074.1(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224

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