ClinVar Miner

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

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Total variants: 6
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NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.4059= (p.Gln1353=) rs1516446
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter)

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