ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_023073.3(CPLANE1):c.1055C>A (p.Thr352Lys) rs1443893630
NM_023073.3(CPLANE1):c.1281T>A (p.Asp427Glu) rs1416115425
NM_023073.3(CPLANE1):c.1371+5A>G rs794727005
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548
NM_023073.3(CPLANE1):c.1507G>A (p.Ala503Thr) rs1064796585
NM_023073.3(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540
NM_023073.3(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993
NM_023073.3(CPLANE1):c.2138C>T (p.Ser713Leu) rs765005739
NM_023073.3(CPLANE1):c.221C>T (p.Ala74Val) rs139496915
NM_023073.3(CPLANE1):c.2318A>G (p.Tyr773Cys) rs1057521766
NM_023073.3(CPLANE1):c.2339A>G (p.Gln780Arg) rs1289028361
NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154
NM_023073.3(CPLANE1):c.2848T>G (p.Phe950Val) rs794727177
NM_023073.3(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_023073.3(CPLANE1):c.3295A>G (p.Ile1099Val) rs768197468
NM_023073.3(CPLANE1):c.3341T>A (p.Val1114Glu) rs746467519
NM_023073.3(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241
NM_023073.3(CPLANE1):c.3665T>C (p.Met1222Thr) rs768751619
NM_023073.3(CPLANE1):c.3685G>C (p.Gly1229Arg) rs1057522278
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.3846G>A (p.Met1282Ile) rs1554086273
NM_023073.3(CPLANE1):c.4074C>G (p.Ile1358Met)
NM_023073.3(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118
NM_023073.3(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523
NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_023073.3(CPLANE1):c.532_534del (p.Lys178del) rs886043021
NM_023073.3(CPLANE1):c.5363_5365del (p.Leu1788del) rs1561522930
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169
NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_023073.3(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483
NM_023073.3(CPLANE1):c.6583A>G (p.Thr2195Ala) rs374876051
NM_023073.3(CPLANE1):c.6695C>T (p.Ser2232Phe)
NM_023073.3(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del) rs1561476971
NM_023073.3(CPLANE1):c.6989A>G (p.Gln2330Arg) rs886041152
NM_023073.3(CPLANE1):c.7054T>C (p.Ser2352Pro) rs774239772
NM_023073.3(CPLANE1):c.7159A>G (p.Ile2387Val) rs1351045535
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284
NM_023073.3(CPLANE1):c.8080G>A (p.Ala2694Thr) rs749132510
NM_023073.3(CPLANE1):c.81+5G>T rs1057523306
NM_023073.3(CPLANE1):c.8164_8166delinsTTT (p.Glu2722Phe) rs1561422940
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8796A>G (p.Pro2932=)
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.895G>T (p.Gly299Ter) rs1561704278
NM_023073.3(CPLANE1):c.9292G>A (p.Gly3098Arg) rs144081297
NM_023073.3(CPLANE1):c.9539_9541TGG[1] (p.Val3181del) rs1561271347
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.