ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, type 4 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 5
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HGVS dbSNP
NM_000090.3(COL3A1):c.3312C>T (p.Gly1104=) rs752919642
NM_000090.3(COL3A1):c.3604G>T (p.Ala1202Ser) rs1270244946
NM_000090.3(COL3A1):c.4254+3A>G rs376799861
NM_000090.4(COL3A1):c.1455+4C>T
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=)

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