ClinVar Miner

List of variants reported as uncertain significance for Lissencephaly 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.*286G>A rs558625464 0.00322
NM_017668.3(NDE1):c.*1808T>G rs147741620 0.00215
NM_017668.3(NDE1):c.386+9G>A rs147174812 0.00063
NM_017668.3(NDE1):c.*312C>T rs527245682 0.00061
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_017668.3(NDE1):c.*1211A>T rs74009413 0.00031
NM_017668.3(NDE1):c.*1952A>C rs564739542 0.00026
NM_017668.3(NDE1):c.744G>A (p.Ala248=) rs1123418 0.00025
NM_017668.3(NDE1):c.*1786G>T rs542729053 0.00021
NM_017668.3(NDE1):c.*1850G>A rs149210439 0.00021
NM_017668.3(NDE1):c.302C>T (p.Ala101Val) rs201587506 0.00020
NM_017668.3(NDE1):c.309C>G (p.Thr103=) rs376548563 0.00014
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys) rs777008106 0.00013
NM_017668.3(NDE1):c.720C>T (p.Thr240=) rs150492774 0.00013
NM_017668.3(NDE1):c.921C>A (p.Ser307Arg) rs368310178 0.00012
NM_017668.3(NDE1):c.*1790T>C rs554671949 0.00011
NM_001143979.2(NDE1):c.-340T>A rs752993685 0.00010
NM_017668.3(NDE1):c.*1571A>G rs564847648 0.00009
NM_017668.3(NDE1):c.*914A>G rs886051751 0.00009
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_017668.3(NDE1):c.*1388C>T rs886051753 0.00006
NM_017668.3(NDE1):c.155C>T (p.Thr52Met) rs148118152 0.00006
NM_017668.3(NDE1):c.184A>G (p.Arg62Gly) rs1000629971 0.00006
NM_017668.3(NDE1):c.624C>T (p.Ala208=) rs149046258 0.00006
NM_017668.3(NDE1):c.95C>T (p.Thr32Met) rs147283674 0.00006
NM_017668.3(NDE1):c.*901C>A rs1487148358 0.00005
NM_001143979.2(NDE1):c.-398A>C rs886051716 0.00004
NM_017668.3(NDE1):c.*896A>C rs113151354 0.00004
NM_017668.3(NDE1):c.12C>T (p.Ser4=) rs572790932 0.00004
NM_017668.3(NDE1):c.291G>A (p.Glu97=) rs760012847 0.00004
NM_017668.3(NDE1):c.84-5T>C rs587783872 0.00004
NM_017668.3(NDE1):c.956C>T (p.Thr319Met) rs141262029 0.00004
NM_017668.3(NDE1):c.*1842A>G rs1230417638 0.00003
NM_017668.3(NDE1):c.*259G>T rs886051742 0.00003
NM_001143979.2(NDE1):c.-695C>T rs551758626 0.00002
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463 0.00002
NM_017668.3(NDE1):c.*2030T>C rs886051757 0.00002
NM_017668.3(NDE1):c.*344C>T rs886051745 0.00002
NM_017668.3(NDE1):c.823C>T (p.Arg275Trp) rs769264617 0.00002
NM_001143979.1(NDE1):c.-812C>T rs886051710 0.00001
NM_001143979.2(NDE1):c.-479C>T rs886051715 0.00001
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) rs886051746 0.00001
NM_017668.3(NDE1):c.*1305C>A rs201510034 0.00001
NM_017668.3(NDE1):c.*193G>A rs745426392 0.00001
NM_017668.3(NDE1):c.*593A>G rs770305005 0.00001
NM_017668.3(NDE1):c.436A>T (p.Ile146Phe) rs769769294 0.00001
NM_017668.3(NDE1):c.524-6G>A rs770035211 0.00001
NM_017668.3(NDE1):c.712G>A (p.Asp238Asn) rs369224665 0.00001
NM_017668.3(NDE1):c.745G>T (p.Ala249Ser) rs147233260 0.00001
NM_017668.3(NDE1):c.814G>A (p.Ala272Thr) rs1360459460 0.00001
NM_001143979.1(NDE1):c.-765C>T rs374184031
NM_001143979.1(NDE1):c.-794C>T rs867184365
NM_001143979.1(NDE1):c.-825G>A rs1340834896
NM_001143979.2(NDE1):c.-132C>T rs886051720
NM_001143979.2(NDE1):c.-186G>T rs886051718
NM_001143979.2(NDE1):c.-246A>C rs2036218596
NM_001143979.2(NDE1):c.-512T>G rs886051714
NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp) rs2040361516
NM_017668.3(NDE1):c.*1060A>G rs2040699487
NM_017668.3(NDE1):c.*1064T>A rs2040699736
NM_017668.3(NDE1):c.*1155A>G rs886051752
NM_017668.3(NDE1):c.*1209T>G rs2040706847
NM_017668.3(NDE1):c.*1366C>T rs2040715879
NM_017668.3(NDE1):c.*1383G>A rs1265003834
NM_017668.3(NDE1):c.*1567G>T rs2040725985
NM_017668.3(NDE1):c.*1656C>T rs2040729538
NM_017668.3(NDE1):c.*1663C>A rs886051754
NM_017668.3(NDE1):c.*1674A>C rs2040730599
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.*559G>T rs886051747
NM_017668.3(NDE1):c.*897A>C rs565400287
NM_017668.3(NDE1):c.-35C>T rs886051721
NM_017668.3(NDE1):c.145G>T (p.Glu49Ter) rs1567627484
NM_017668.3(NDE1):c.35A>G (p.Glu12Gly) rs886051722
NM_017668.3(NDE1):c.406G>A (p.Glu136Lys)
NM_017668.3(NDE1):c.623C>T (p.Ala208Val) rs587783867
NM_017668.3(NDE1):c.632C>T (p.Ser211Phe) rs886051724
NM_017668.3(NDE1):c.690G>A (p.Gly230=) rs886051725
NM_017668.3(NDE1):c.700C>T (p.Arg234Cys) rs201783071
NM_017668.3(NDE1):c.701G>A (p.Arg234His) rs138255766
NM_017668.3(NDE1):c.777C>G (p.Asp259Glu)
NM_017668.3(NDE1):c.832G>C (p.Val278Leu) rs199730431

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.