ClinVar Miner

List of variants in gene COL5A1 reported as likely pathogenic for Ehlers-Danlos syndrome

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504 0.00010
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000093.5(COL5A1):c.1720-11T>A rs863223444 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137676815)_(137677914_?)del
NM_000093.5(COL5A1):c.110-1G>C rs1833255504
NM_000093.5(COL5A1):c.1431+1G>A
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala)
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.1569+1G>A rs2132682690
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter) rs895691193
NM_000093.5(COL5A1):c.1662+1G>A rs1835753446
NM_000093.5(COL5A1):c.1720-1G>A rs1835880166
NM_000093.5(COL5A1):c.1774-1G>A rs2132690733
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val) rs777506210
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000093.5(COL5A1):c.2034+2T>A
NM_000093.5(COL5A1):c.2134-2_2150dup
NM_000093.5(COL5A1):c.2331+1G>A
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2429_2430+26del
NM_000093.5(COL5A1):c.2431-1G>A
NM_000093.5(COL5A1):c.2484+1G>T rs1564455577
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter) rs1837403402
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg)
NM_000093.5(COL5A1):c.2700+2T>C rs1588551226
NM_000093.5(COL5A1):c.2701-1G>A
NM_000093.5(COL5A1):c.278-1G>T
NM_000093.5(COL5A1):c.3006+1G>A
NM_000093.5(COL5A1):c.3114+1G>A rs1838169083
NM_000093.5(COL5A1):c.3205-1G>C
NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter) rs2132830435
NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.3529-1G>T rs1588577214
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs) rs2132848217
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) rs1319735007
NM_000093.5(COL5A1):c.4014+1G>A rs2132854041
NM_000093.5(COL5A1):c.4015-1G>A
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4069-1G>T rs1564478485
NM_000093.5(COL5A1):c.4176+1G>T
NM_000093.5(COL5A1):c.4231-2A>G
NM_000093.5(COL5A1):c.4393-1G>A
NM_000093.5(COL5A1):c.4393-4_4398del
NM_000093.5(COL5A1):c.474_491+24del
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.655-1917_690del
NM_000093.5(COL5A1):c.655-1G>A
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000093.5(COL5A1):c.786+1G>A
NM_000093.5(COL5A1):c.786+5G>T
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.925-2A>C rs2132639011

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