ClinVar Miner

List of variants reported as uncertain significance for Jalili syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020184.4(CNNM4):c.*1126G>A rs141670657 0.00216
NM_020184.4(CNNM4):c.*1430G>A rs549999969 0.00183
NM_020184.4(CNNM4):c.*1362G>A rs561958044 0.00149
NM_020184.4(CNNM4):c.*203del rs562289410 0.00147
NM_020184.4(CNNM4):c.1500C>T (p.Ile500=) rs144915228 0.00098
NM_020184.4(CNNM4):c.788A>G (p.Asn263Ser) rs150269409 0.00054
NM_020184.4(CNNM4):c.591C>T (p.Gly197=) rs35633391 0.00043
NM_020184.4(CNNM4):c.1942C>T (p.Pro648Ser) rs144495984 0.00030
NM_020184.4(CNNM4):c.253A>G (p.Asn85Asp) rs138690324 0.00029
NM_020184.4(CNNM4):c.*286A>T rs532504125 0.00027
NM_020184.4(CNNM4):c.2130+5G>A rs200517269 0.00025
NM_020184.4(CNNM4):c.556A>G (p.Ile186Val) rs146760430 0.00024
NM_020184.4(CNNM4):c.1792G>A (p.Ala598Thr) rs201310811 0.00021
NM_020184.4(CNNM4):c.2154C>T (p.Asn718=) rs138445233 0.00019
NM_020184.4(CNNM4):c.2255T>G (p.Val752Gly) rs200775112 0.00019
NM_020184.4(CNNM4):c.91T>C (p.Trp31Arg) rs760633483 0.00017
NM_020184.4(CNNM4):c.*924G>A rs886056479 0.00014
NM_020184.4(CNNM4):c.*753G>A rs79109340 0.00012
NM_020184.4(CNNM4):c.1956C>T (p.Ser652=) rs149656750 0.00010
NM_020184.4(CNNM4):c.1899G>A (p.Thr633=) rs753028867 0.00007
NM_020184.4(CNNM4):c.*1517G>A rs538345373 0.00006
NM_020184.4(CNNM4):c.*1565C>T rs886056481 0.00006
NM_020184.4(CNNM4):c.*364A>G rs886056476 0.00006
NM_020184.4(CNNM4):c.1568G>A (p.Arg523Gln) rs750374054 0.00006
NM_020184.4(CNNM4):c.1821G>A (p.Lys607=) rs200000984 0.00006
NM_020184.4(CNNM4):c.1274A>C (p.Lys425Thr) rs778131831 0.00005
NM_020184.4(CNNM4):c.1312C>G (p.Leu438Val) rs774130429 0.00004
NM_020184.4(CNNM4):c.411G>A (p.Lys137=) rs758539045 0.00004
NM_020184.4(CNNM4):c.*189G>T rs1269949616 0.00003
NM_020184.4(CNNM4):c.*1937G>A rs886056483 0.00003
NM_020184.4(CNNM4):c.*479C>T rs1446736662 0.00003
NM_020184.4(CNNM4):c.*1059T>C rs139799133 0.00002
NM_020184.4(CNNM4):c.*1158C>T rs760774484 0.00002
NM_020184.4(CNNM4):c.1518G>A (p.Ser506=) rs369283007 0.00002
NM_020184.4(CNNM4):c.2137C>T (p.Arg713Trp) rs552453867 0.00002
NM_020184.4(CNNM4):c.*1924G>T rs1260763419 0.00001
NM_020184.4(CNNM4):c.1422C>T (p.Ile474=) rs766518199 0.00001
NM_020184.4(CNNM4):c.2171G>A (p.Arg724His) rs771341175 0.00001
NM_020184.4(CNNM4):c.2218A>G (p.Met740Val) rs201290867 0.00001
NM_020184.4(CNNM4):c.2296C>G (p.Leu766Val) rs2079238946 0.00001
NM_020184.4(CNNM4):c.243C>T (p.Tyr81=) rs886056474 0.00001
NM_020184.4(CNNM4):c.283G>C (p.Glu95Gln) rs1320684566 0.00001
NM_020184.4(CNNM4):c.61C>G (p.Leu21Val) rs886056471 0.00001
NM_020184.4(CNNM4):c.944C>T (p.Pro315Leu) rs2469454871 0.00001
NM_020184.4(CNNM4):c.*1045T>C rs886056480
NM_020184.4(CNNM4):c.*1754G>A rs886056482
NM_020184.4(CNNM4):c.*1836C>T rs2079256427
NM_020184.4(CNNM4):c.*204G>T rs2079241228
NM_020184.4(CNNM4):c.*2121G>A rs566822382
NM_020184.4(CNNM4):c.*2256GTT[1] rs886056484
NM_020184.4(CNNM4):c.*252G>C rs778510289
NM_020184.4(CNNM4):c.*475C>T rs886056478
NM_020184.4(CNNM4):c.*637T>C rs2079245005
NM_020184.4(CNNM4):c.-90C>T rs886056470
NM_020184.4(CNNM4):c.1045G>A (p.Glu349Lys) rs2078769353
NM_020184.4(CNNM4):c.1326T>G (p.Thr442=) rs761775711
NM_020184.4(CNNM4):c.135G>A (p.Thr45=) rs886056473
NM_020184.4(CNNM4):c.1474G>A (p.Gly492Ser) rs886056475
NM_020184.4(CNNM4):c.1614G>T (p.Ala538=) rs777167557
NM_020184.4(CNNM4):c.1669T>C (p.Phe557Leu) rs1163207281
NM_020184.4(CNNM4):c.1779C>G (p.His593Gln) rs1350824280
NM_020184.4(CNNM4):c.1902C>T (p.Gly634=) rs200110847
NM_020184.4(CNNM4):c.1951C>T (p.Arg651Cys) rs756301978
NM_020184.4(CNNM4):c.445G>T (p.Ala149Ser) rs1416575882
NM_020184.4(CNNM4):c.636_637insATGCTGGACCCCATG (p.Met212_Glu213insMetLeuAspProMet) rs2153341664
NM_020184.4(CNNM4):c.78G>A (p.Leu26=) rs886056472

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.