ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, type 4 by Fulgent Genetics,Fulgent Genetics

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Total variants: 5
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HGVS dbSNP
NM_000090.3(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.3(COL3A1):c.3937A>C (p.Lys1313Gln) rs886038983
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650

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