ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 142
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HGVS dbSNP
NM_023073.3(CPLANE1):c.*1318A>G rs145399031
NM_023073.3(CPLANE1):c.*1369C>A rs116197379
NM_023073.3(CPLANE1):c.*18G>T rs200332492
NM_023073.3(CPLANE1):c.*408G>A
NM_023073.3(CPLANE1):c.*40C>T
NM_023073.3(CPLANE1):c.*427G>A
NM_023073.3(CPLANE1):c.*465G>A rs886060570
NM_023073.3(CPLANE1):c.*471A>T
NM_023073.3(CPLANE1):c.*518T>C rs556117030
NM_023073.3(CPLANE1):c.*642G>A rs543018376
NM_023073.3(CPLANE1):c.*661T>G rs886060569
NM_023073.3(CPLANE1):c.*714T>A
NM_023073.3(CPLANE1):c.*813A>G
NM_023073.3(CPLANE1):c.*833T>C
NM_023073.3(CPLANE1):c.*872A>C rs886060568
NM_023073.3(CPLANE1):c.*897C>T
NM_023073.3(CPLANE1):c.*94G>T rs886060571
NM_023073.3(CPLANE1):c.-24T>C
NM_023073.3(CPLANE1):c.1055C>T (p.Thr352Ile)
NM_023073.3(CPLANE1):c.1096C>T (p.Pro366Ser)
NM_023073.3(CPLANE1):c.1116G>A (p.Thr372=) rs551066377
NM_023073.3(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809
NM_023073.3(CPLANE1):c.1312C>T (p.Leu438Phe)
NM_023073.3(CPLANE1):c.1347A>G (p.Ile449Met)
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.1680G>A (p.Glu560=) rs749473632
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=) rs186970259
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.1872C>T (p.Ser624=) rs886060582
NM_023073.3(CPLANE1):c.190G>T (p.Val64Phe)
NM_023073.3(CPLANE1):c.2207G>A (p.Ser736Asn)
NM_023073.3(CPLANE1):c.221C>T (p.Ala74Val) rs139496915
NM_023073.3(CPLANE1):c.2291+8C>T
NM_023073.3(CPLANE1):c.2325A>T (p.Lys775Asn)
NM_023073.3(CPLANE1):c.2393T>A (p.Met798Lys)
NM_023073.3(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581
NM_023073.3(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_023073.3(CPLANE1):c.2664T>A (p.Asp888Glu)
NM_023073.3(CPLANE1):c.2885A>G (p.His962Arg)
NM_023073.3(CPLANE1):c.2933G>A (p.Arg978Gln)
NM_023073.3(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404
NM_023073.3(CPLANE1):c.3428G>A (p.Arg1143Lys)
NM_023073.3(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550
NM_023073.3(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169
NM_023073.3(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447
NM_023073.3(CPLANE1):c.361T>C (p.Tyr121His) rs886060587
NM_023073.3(CPLANE1):c.3747C>T (p.Ile1249=)
NM_023073.3(CPLANE1):c.3812-5T>G rs375780513
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4054A>G (p.Ile1352Val)
NM_023073.3(CPLANE1):c.4074C>T (p.Ile1358=) rs145018253
NM_023073.3(CPLANE1):c.4248G>A (p.Val1416=)
NM_023073.3(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118
NM_023073.3(CPLANE1):c.4355C>T (p.Ser1452Phe)
NM_023073.3(CPLANE1):c.4362del (p.Thr1455fs) rs1561531833
NM_023073.3(CPLANE1):c.4379G>C (p.Ser1460Thr) rs886060579
NM_023073.3(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224
NM_023073.3(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_023073.3(CPLANE1):c.4481+4C>G
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710
NM_023073.3(CPLANE1):c.4787T>C (p.Val1596Ala)
NM_023073.3(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579
NM_023073.3(CPLANE1):c.4948T>C (p.Ser1650Pro)
NM_023073.3(CPLANE1):c.4953A>G (p.Val1651=) rs373122844
NM_023073.3(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938
NM_023073.3(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_023073.3(CPLANE1):c.5150G>A (p.Cys1717Tyr)
NM_023073.3(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578
NM_023073.3(CPLANE1):c.5210T>C (p.Leu1737Pro)
NM_023073.3(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_023073.3(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456
NM_023073.3(CPLANE1):c.5413_5417del (p.Ala1804_Ile1805insTer) rs1202341886
NM_023073.3(CPLANE1):c.5422-12G>A
NM_023073.3(CPLANE1):c.5447G>C (p.Cys1816Ser)
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.5783C>G (p.Ala1928Gly)
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.6062C>G (p.Pro2021Arg)
NM_023073.3(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169
NM_023073.3(CPLANE1):c.6123G>A (p.Ser2041=)
NM_023073.3(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_023073.3(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657
NM_023073.3(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_023073.3(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147
NM_023073.3(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018
NM_023073.3(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_023073.3(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_023073.3(CPLANE1):c.745G>C (p.Glu249Gln)
NM_023073.3(CPLANE1):c.7478G>A (p.Arg2493Gln)
NM_023073.3(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_023073.3(CPLANE1):c.7494A>G (p.Ile2498Met)
NM_023073.3(CPLANE1):c.7588+8T>C rs377295986
NM_023073.3(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145
NM_023073.3(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284
NM_023073.3(CPLANE1):c.7764G>A (p.Met2588Ile)
NM_023073.3(CPLANE1):c.7860G>A (p.Gln2620=) rs750429337
NM_023073.3(CPLANE1):c.7901A>G (p.His2634Arg) rs373755833
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.7930G>C (p.Val2644Leu) rs772274656
NM_023073.3(CPLANE1):c.8013A>C (p.Ala2671=) rs201122718
NM_023073.3(CPLANE1):c.8035C>T (p.Arg2679Trp) rs142792453
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.8312C>T (p.Thr2771Ile)
NM_023073.3(CPLANE1):c.8352T>C (p.Thr2784=) rs760623510
NM_023073.3(CPLANE1):c.8377G>C (p.Glu2793Gln) rs886060574
NM_023073.3(CPLANE1):c.8418C>T (p.Ala2806=)
NM_023073.3(CPLANE1):c.8501+13A>C
NM_023073.3(CPLANE1):c.8501+8_8501+12del rs763664569
NM_023073.3(CPLANE1):c.8508A>G (p.Ser2836=) rs886060573
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8549A>G (p.Asp2850Gly) rs144427399
NM_023073.3(CPLANE1):c.8628C>T (p.Ser2876=) rs148005445
NM_023073.3(CPLANE1):c.8629A>G (p.Arg2877Gly)
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_023073.3(CPLANE1):c.8746G>A (p.Ala2916Thr)
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.8869G>A (p.Glu2957Lys)
NM_023073.3(CPLANE1):c.8882G>A (p.Arg2961His) rs771622959
NM_023073.3(CPLANE1):c.8901C>T (p.Tyr2967=) rs377142277
NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=) rs141014620
NM_023073.3(CPLANE1):c.8993C>G (p.Ser2998Cys) rs557372169
NM_023073.3(CPLANE1):c.9018A>G (p.Pro3006=)
NM_023073.3(CPLANE1):c.9090G>A (p.Pro3030=) rs371595122
NM_023073.3(CPLANE1):c.9101A>G (p.His3034Arg) rs547370426
NM_023073.3(CPLANE1):c.9224T>C (p.Val3075Ala)
NM_023073.3(CPLANE1):c.9252G>A (p.Pro3084=) rs377707922
NM_023073.3(CPLANE1):c.9292G>A (p.Gly3098Arg) rs144081297
NM_023073.3(CPLANE1):c.938+10C>G
NM_023073.3(CPLANE1):c.9412C>G (p.Leu3138Val) rs886060572
NM_023073.3(CPLANE1):c.9471dup (p.Val3158fs) rs765432713
NM_023073.3(CPLANE1):c.9567G>A (p.Leu3189=)
NM_023073.3(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584

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