ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly) rs144427399 0.00106
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993 0.00078
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416 0.00057
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr) rs138639220 0.00029
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001384732.1(CPLANE1):c.3131G>A (p.Arg1044His) rs779754977 0.00021
NM_001384732.1(CPLANE1):c.1835T>C (p.Ile612Thr) rs551661336 0.00020
NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796 0.00019
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248 0.00019
NM_001384732.1(CPLANE1):c.7559A>G (p.His2520Arg) rs369951498 0.00017
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln) rs369204500 0.00012
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) rs534807606 0.00012
NM_001384732.1(CPLANE1):c.6583A>G (p.Thr2195Ala) rs374876051 0.00011
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299 0.00010
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn) rs765250980 0.00009
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985 0.00007
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1312C>T (p.Leu438Phe) rs774184345 0.00004
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys) rs775743007 0.00004
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) rs369286097 0.00004
NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys) rs200612080 0.00004
NM_001384732.1(CPLANE1):c.1964A>C (p.Gln655Pro) rs923514393 0.00003
NM_001384732.1(CPLANE1):c.9043C>T (p.Arg3015Cys) rs138862600 0.00003
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.3672G>A (p.Lys1224=) rs1220560319 0.00002
NM_001384732.1(CPLANE1):c.4246G>A (p.Val1416Met) rs376365094 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_001384732.1(CPLANE1):c.5072A>G (p.Asp1691Gly) rs1348488187 0.00002
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met) rs1046843624 0.00001
NM_001384732.1(CPLANE1):c.1628G>T (p.Arg543Ile) rs1451330944 0.00001
NM_001384732.1(CPLANE1):c.2339A>G (p.Gln780Arg) rs1289028361 0.00001
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr) rs1160747089 0.00001
NM_001384732.1(CPLANE1):c.3665T>C (p.Met1222Thr) rs768751619 0.00001
NM_001384732.1(CPLANE1):c.3872A>G (p.Tyr1291Cys) rs372625524 0.00001
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp) rs543556323 0.00001
NM_001384732.1(CPLANE1):c.6607C>G (p.Pro2203Ala) rs773750881 0.00001
NM_001384732.1(CPLANE1):c.6989A>G (p.Gln2330Arg) rs886041152 0.00001
NM_001384732.1(CPLANE1):c.7579G>A (p.Val2527Ile) rs749261159 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly) rs766541647 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.9075T>A (p.Asn3025Lys) rs573500656 0.00001
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg) rs768570313 0.00001
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584 0.00001
NM_001384732.1(CPLANE1):c.1055C>A (p.Thr352Lys) rs1443893630
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg) rs1286291749
NM_001384732.1(CPLANE1):c.113A>C (p.Lys38Thr)
NM_001384732.1(CPLANE1):c.1214C>T (p.Ala405Val) rs1796758136
NM_001384732.1(CPLANE1):c.1388_1389delinsCT (p.Leu463Pro) rs2150449247
NM_001384732.1(CPLANE1):c.1507G>A (p.Ala503Thr) rs1064796585
NM_001384732.1(CPLANE1):c.2015T>G (p.Leu672Arg)
NM_001384732.1(CPLANE1):c.2138C>T (p.Ser713Leu) rs765005739
NM_001384732.1(CPLANE1):c.223T>C (p.Trp75Arg)
NM_001384732.1(CPLANE1):c.2318A>G (p.Tyr773Cys) rs1057521766
NM_001384732.1(CPLANE1):c.2539G>T (p.Val847Phe)
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.3685G>C (p.Gly1229Arg) rs1057522278
NM_001384732.1(CPLANE1):c.3713C>G (p.Pro1238Arg) rs2151369270
NM_001384732.1(CPLANE1):c.3983C>G (p.Ala1328Gly)
NM_001384732.1(CPLANE1):c.4247T>C (p.Val1416Ala)
NM_001384732.1(CPLANE1):c.4697T>C (p.Leu1566Pro)
NM_001384732.1(CPLANE1):c.5554T>G (p.Cys1852Gly)
NM_001384732.1(CPLANE1):c.5820+3A>C rs2151089032
NM_001384732.1(CPLANE1):c.6301A>G (p.Arg2101Gly)
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) rs186460995
NM_001384732.1(CPLANE1):c.6980C>T (p.Thr2327Ile) rs2150933735
NM_001384732.1(CPLANE1):c.7054T>C (p.Ser2352Pro) rs774239772
NM_001384732.1(CPLANE1):c.7079C>G (p.Pro2360Arg) rs779569678
NM_001384732.1(CPLANE1):c.7159A>G (p.Ile2387Val) rs1351045535
NM_001384732.1(CPLANE1):c.7271T>C (p.Ile2424Thr)
NM_001384732.1(CPLANE1):c.7507G>A (p.Asp2503Asn)
NM_001384732.1(CPLANE1):c.7575C>T (p.Phe2525=)
NM_001384732.1(CPLANE1):c.8373+3A>G rs780519767
NM_001384732.1(CPLANE1):c.8408G>T (p.Gly2803Val)
NM_001384732.1(CPLANE1):c.8498G>A (p.Ser2833Asn)
NM_001384732.1(CPLANE1):c.8766A>T (p.Leu2922Phe) rs1768646731
NM_001384732.1(CPLANE1):c.8793-9A>G
NM_001384732.1(CPLANE1):c.9473A>C (p.Lys3158Thr) rs1758150788
NM_001384732.1(CPLANE1):c.9585_9588del (p.Leu3195fs) rs1561272294

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