List of variants reported as uncertain significance for Ehlers-Danlos syndrome, classic type, 1 by MGZ Medical Genetics Center

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)	rs151115748	0.00014
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	rs375076580	0.00007
NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu)	rs1297565068	0.00002
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)	rs754447923	0.00001
NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro)	rs1830127790	0.00001
NM_000093.5(COL5A1):c.1522G>A (p.Gly508Arg)
NM_000093.5(COL5A1):c.1537C>T (p.Pro513Ser)
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys)	rs1564445192
NM_000093.5(COL5A1):c.2331+3G>C
NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro)

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