ClinVar Miner

List of variants in gene CEP85L, PLN studied for dilated cardiomyopathy 1P

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042475.3(CEP85L):c.1020+6052A>C rs12198461 0.47403
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_001042475.3(CEP85L):c.1020+17189C>T rs9489434 0.01645
NM_001042475.3(CEP85L):c.1020+6360T>C rs28763979 0.01430
NM_001042475.3(CEP85L):c.1020+5170C>T rs537800022 0.00231
NM_001042475.3(CEP85L):c.1020+5206G>A rs146145000 0.00195
NM_001042475.3(CEP85L):c.1020+17159G>A rs150080760 0.00167
NM_001042475.3(CEP85L):c.1020+6663G>A rs189611501 0.00073
NM_001042475.3(CEP85L):c.1020+17280C>A rs551982604 0.00070
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_001042475.3(CEP85L):c.1020+6199A>G rs79199092 0.00038
NM_001042475.3(CEP85L):c.1020+6034A>G rs117280667 0.00032
NM_001042475.3(CEP85L):c.1020+17275G>C rs188578681 0.00029
NM_001042475.3(CEP85L):c.1020+5442A>T rs528466147 0.00011
NM_001042475.3(CEP85L):c.1020+5351A>G rs185945888 0.00008
NM_001042475.3(CEP85L):c.1020+6369A>G rs565692601 0.00007
NM_001042475.3(CEP85L):c.1020+5269T>C rs540046916 0.00006
NM_001042475.3(CEP85L):c.1020+5127G>A rs904745767 0.00004
NM_001042475.3(CEP85L):c.1020+5250A>G rs893609535 0.00004
NM_001042475.3(CEP85L):c.1020+5558G>A rs886061004 0.00004
NM_001042475.3(CEP85L):c.1020+6172T>C rs768837853 0.00004
NM_001042475.3(CEP85L):c.1020+6297C>T rs1200877355 0.00004
NM_001042475.3(CEP85L):c.1020+6709A>G rs751500735 0.00004
NM_002667.5(PLN):c.144C>T (p.Ile48=) rs141114252 0.00004
NM_002667.5(PLN):c.145G>A (p.Val49Met) rs749962743 0.00004
NM_001042475.3(CEP85L):c.1020+5224G>A rs886061007 0.00003
NM_001042475.3(CEP85L):c.1020+5314G>A rs886061005 0.00003
NM_001042475.3(CEP85L):c.1020+5437T>A rs183097878 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002667.5(PLN):c.41G>T (p.Arg14Ile) rs151112761 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_001042475.3(CEP85L):c.1020+5868G>A rs886061001 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002667.5(PLN):c.34A>G (p.Ile12Val) rs749571694 0.00002
NM_002667.5(PLN):c.36A>G (p.Ile12Met) rs774556120 0.00002
NM_001042475.3(CEP85L):c.1020+17181A>T rs779232815 0.00001
NM_001042475.3(CEP85L):c.1020+17347A>G rs1230141633 0.00001
NM_001042475.3(CEP85L):c.1020+5277A>G rs886061006 0.00001
NM_001042475.3(CEP85L):c.1020+5379A>T rs562026339 0.00001
NM_001042475.3(CEP85L):c.1020+5572A>G rs886061003 0.00001
NM_002667.5(PLN):c.141C>G (p.Ile47Met) rs552078051 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) rs761056344 0.00001
NM_002667.5(PLN):c.74G>A (p.Arg25His) rs1004405095 0.00001
NC_000006.11:g.(?_118868442)_(118882587_?)dup
NC_000006.11:g.(?_118869224)_(118880253_?)dup
NC_000006.11:g.(?_118869382)_(118880263_?)dup
NC_000006.11:g.(?_118879986)_(118880253_?)dup
NC_000006.11:g.(?_118880085)_(118880243_?)del
NC_000006.11:g.(?_118880085)_(118880243_?)dup
NC_000006.12:g.(?_118548061)_(118559090_?)del
NM_001042475.3(CEP85L):c.1020+17310T>C rs920627366
NM_001042475.3(CEP85L):c.1020+17353T>C rs1778321580
NM_001042475.3(CEP85L):c.1020+5546C>T rs1779128355
NM_001042475.3(CEP85L):c.1020+6359C>T rs886060998
NM_002667.4(PLN):c.-97-?_*1344+?dup1600
NM_002667.5(PLN):c.105_106del (p.Phe35fs)
NM_002667.5(PLN):c.113T>C (p.Ile38Thr) rs1554219862
NM_002667.5(PLN):c.121T>A (p.Cys41Ser)
NM_002667.5(PLN):c.124C>A (p.Leu42Ile) rs2114970183
NM_002667.5(PLN):c.126C>T (p.Leu42=)
NM_002667.5(PLN):c.126_127del (p.Leu43fs)
NM_002667.5(PLN):c.129G>C (p.Leu43Phe)
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) rs794729210
NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup) rs1554219865
NM_002667.5(PLN):c.136T>C (p.Cys46Arg)
NM_002667.5(PLN):c.138T>C (p.Cys46=) rs1583047929
NM_002667.5(PLN):c.143T>G (p.Ile48Ser)
NM_002667.5(PLN):c.145_158del (p.Val49fs)
NM_002667.5(PLN):c.149T>C (p.Met50Thr) rs1779076744
NM_002667.5(PLN):c.151C>A (p.Leu51Ile) rs766452369
NM_002667.5(PLN):c.152T>C (p.Leu51Pro) rs397516783
NM_002667.5(PLN):c.154C>A (p.Leu52Ile) rs2114970391
NM_002667.5(PLN):c.156C>A (p.Leu52=) rs1779077253
NM_002667.5(PLN):c.16T>C (p.Tyr6His)
NM_002667.5(PLN):c.21C>T (p.Leu7=)
NM_002667.5(PLN):c.22A>C (p.Thr8Pro) rs1060502977
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.26_29dup (p.Ala11fs) rs1779066083
NM_002667.5(PLN):c.27C>A (p.Arg9=) rs145623013
NM_002667.5(PLN):c.29C>T (p.Ser10Leu) rs1554219846
NM_002667.5(PLN):c.31G>A (p.Ala11Thr) rs2114969616
NM_002667.5(PLN):c.31G>C (p.Ala11Pro)
NM_002667.5(PLN):c.33T>C (p.Ala11=)
NM_002667.5(PLN):c.35T>C (p.Ile12Thr)
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002667.5(PLN):c.43G>A (p.Ala15Thr) rs397516785
NM_002667.5(PLN):c.45C>A (p.Ala15=)
NM_002667.5(PLN):c.51C>A (p.Thr17=)
NM_002667.5(PLN):c.56A>G (p.Glu19Gly) rs2114969791
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002667.5(PLN):c.69A>G (p.Gln23=)
NM_002667.5(PLN):c.73C>G (p.Arg25Gly) rs761056344
NM_002667.5(PLN):c.79A>G (p.Lys27Glu) rs2114969956
NM_002667.5(PLN):c.85C>T (p.Gln29Ter) rs1779072006
NM_002667.5(PLN):c.90T>C (p.Asn30=) rs868301643
NM_002667.5(PLN):c.94T>C (p.Phe32Leu)
NM_002667.5(PLN):c.95_98del (p.Phe32fs) rs2114970035
NM_002667.5(PLN):c.9dup (p.Val4fs) rs2114969441

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.