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

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=)	rs1130529	0.32745
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)	rs7551175	0.26545
NM_000302.4(PLOD1):c.294C>T (p.Phe98=)	rs7529452	0.24445
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)	rs2273285	0.14145
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=)	rs2230898	0.05658
NM_000302.4(PLOD1):c.2124T>C (p.His708=)	rs879690	0.04545
NM_000302.4(PLOD1):c.644-17T>G	rs41307745	0.04239
NM_000302.4(PLOD1):c.177C>T (p.Gly59=)	rs34032489	0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)	rs34878020	0.02621
NM_000302.4(PLOD1):c.1329-20G>A	rs78527487	0.02519
NM_000302.4(PLOD1):c.1788G>T (p.Val596=)	rs35460537	0.02126
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=)	rs879691	0.02109
NM_000302.4(PLOD1):c.77-3407C>T	rs75220940	0.01953
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)	rs35958757	0.01887
NM_000302.4(PLOD1):c.77-3370G>A	rs112799470	0.00836
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)	rs2230896	0.00668
NM_000302.4(PLOD1):c.975+13C>T	rs79345327	0.00627
NM_000302.4(PLOD1):c.76+17C>T	rs113691754	0.00498
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)	rs74354225	0.00370
NM_000302.4(PLOD1):c.976-16C>T	rs142329815	0.00073
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)	rs142978362
NM_000302.4(PLOD1):c.77-3339C>T

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