ClinVar Miner

List of variants in gene combination COL3A1, LOC126806446 reported as likely benign for Ehlers-Danlos syndrome, type 4

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=) rs148901664 0.00006
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=) rs886038982 0.00002
NM_000090.4(COL3A1):c.2338-7T>C rs1688463217
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=) rs1207914999
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) rs200452382
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=)
NM_000090.4(COL3A1):c.2391+12del
NM_000090.4(COL3A1):c.2391+16A>G
NM_000090.4(COL3A1):c.2391+18T>C
NM_000090.4(COL3A1):c.2392-16A>C rs2153503297
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=) rs1338674766
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=)
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=)
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=) rs2153503304
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) rs1688486002
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) rs1214826179
NM_000090.4(COL3A1):c.2445+14T>G
NM_000090.4(COL3A1):c.2445+15_2445+18del
NM_000090.4(COL3A1):c.2445+19A>G rs776819930

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