List of variants reported as uncertain significance for Ehlers-Danlos syndrome, kyphoscoliotic type 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000302.4(PLOD1):c.77-3358C>T	rs534978828	0.00153
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)	rs112250644	0.00077
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)	rs147940796	0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)	rs149425237	0.00057
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	rs369263247	0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)	rs145447578	0.00004
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)	rs773756799	0.00002
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)	rs771186398	0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)	rs376643174	0.00001
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)	rs886045208
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)	rs549517196
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)	rs1402614845
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.77-3403T>C	rs1645637106

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