List of variants reported as pathogenic for Ehlers-Danlos syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)	rs137853146	0.00006
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)	rs67865220
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg)	rs587779584
NM_000090.4(COL3A1):c.3417+1G>A	rs587779444
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	rs587779650
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)	rs1179967153
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)	rs886042045
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)	rs758337699
NM_001365276.2(TNXB):c.3908del (p.Gln1303fs)
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
NM_007255.3(B4GALT7):c.277dup (p.His93fs)	rs879255634
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	rs542489955
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu)	rs267606729

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