ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, kyphoscoliotic type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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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.*440G>C rs11553681 0.03198
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.*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.540G>A (p.Gln180=) rs35958757 0.01887
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000302.3(PLOD1):c.-77G>A rs144465849 0.00649
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000302.4(PLOD1):c.*614G>T rs15431 0.00472
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387 0.00030
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met) rs748526375 0.00019
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) rs147924545 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000302.4(PLOD1):c.*721T>G rs142707437 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000302.4(PLOD1):c.*128A>G rs927504122 0.00006
NM_000302.4(PLOD1):c.*528G>A rs886045215 0.00006
NM_000302.3(PLOD1):c.-64C>G rs886045195 0.00004
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937 0.00004
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343 0.00004
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346 0.00004
NM_000302.4(PLOD1):c.*148C>G rs886045211 0.00003
NM_000302.4(PLOD1):c.-39G>T rs769995450 0.00003
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290 0.00003
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.302+5G>A rs749607584 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000302.4(PLOD1):c.844-6G>T rs767068264 0.00002
NM_000302.4(PLOD1):c.-58G>A rs552712043 0.00001
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg) rs1221992885 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*461G>T rs1271843257
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe) rs749210400
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys) rs771350321
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) rs1645756307

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