ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, type 4 by Center for Human Genetics, Inc

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Total variants: 7
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HGVS dbSNP
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.1609-17T>G rs1468376126
NM_000090.3(COL3A1):c.1886A>G (p.Lys629Arg) rs1553508467
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.3068G>A (p.Gly1023Asp) rs1553509401
NM_000090.3(COL3A1):c.3201+10C>G rs372405344
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625

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