ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome, kyphoscoliotic type 1

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
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.*71C>G rs2230899 0.02327
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.302+15G>A rs140227667 0.00760
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.*614G>T rs15431 0.00472
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000302.4(PLOD1):c.1902+13G>A rs199765551 0.00259
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_000302.4(PLOD1):c.2028+8G>T rs181951731 0.00092
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.76+22del
NM_000302.4(PLOD1):c.77-3339C>T

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