List of variants reported as uncertain significance for Ehlers-Danlos syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)	rs745413783	0.00010
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)	rs773985005	0.00008
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)	rs767252151	0.00003
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)	rs1228621705	0.00002
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)	rs563606558	0.00001
NM_001365276.2(TNXB):c.8389G>T (p.Gly2797Trp)	rs747680383	0.00001
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)	rs782329906	0.00001
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser)	rs1275851079
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu)	rs1449896543
NM_000093.5(COL5A1):c.384del (p.Ile128fs)	rs1833612720
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala)	rs1765885022
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)	rs397518432
NM_130468.4(CHST14):c.458A>G (p.Tyr153Cys)	rs1894349669

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