ClinVar Miner

List of variants in gene MYH11, NDE1 studied for Lissencephaly, Recessive

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.*202G>A rs11130 0.47916
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_017668.3(NDE1):c.*947G>A rs760023 0.09015
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_017668.3(NDE1):c.*913A>C rs760024 0.08447
NM_017668.3(NDE1):c.*1299A>G rs16967500 0.08018
NM_017668.3(NDE1):c.*1220G>A rs74009414 0.08006
NM_017668.3(NDE1):c.*1389G>A rs11557090 0.07983
NM_017668.3(NDE1):c.*1723C>T rs73519694 0.06691
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_017668.3(NDE1):c.*1784A>G rs113405225 0.01698
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_017668.3(NDE1):c.*2090T>C rs140519946 0.00926
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_017668.3(NDE1):c.*286G>A rs558625464 0.00322
NM_017668.3(NDE1):c.*863C>G rs12927605 0.00231
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_017668.3(NDE1):c.*1808T>G rs147741620 0.00215
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.*897_*898insC rs1555553475 0.00089
NM_017668.3(NDE1):c.947+6903A>G rs558010405 0.00061
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_017668.3(NDE1):c.*943C>T rs149894916 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_017668.3(NDE1):c.947+6531C>A rs370591283 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281 0.00011
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_017668.3(NDE1):c.*1571A>G rs564847648 0.00009
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049 0.00005
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) rs886051736 0.00003
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) rs764375446 0.00002
NM_017668.3(NDE1):c.*1981A>G rs886051756 0.00002
NM_017668.3(NDE1):c.*2030T>C rs886051757 0.00002
NM_017668.3(NDE1):c.*344C>T rs886051745 0.00002
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) rs886051740 0.00001
NM_017668.3(NDE1):c.*593A>G rs770305005 0.00001
NM_017668.3(NDE1):c.947+6327G>A rs886051727 0.00001
NM_017668.3(NDE1):c.947+6742G>C rs886051734 0.00001
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) rs886051741
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.5427G>C (p.Lys1809Asn) rs886051738
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) rs886051737
NM_017668.3(NDE1):c.*1155A>G rs886051752
NM_017668.3(NDE1):c.*1663C>A rs886051754
NM_017668.3(NDE1):c.*1958TTCCC[3] rs886051755
NM_017668.3(NDE1):c.*290dup rs886051743
NM_017668.3(NDE1):c.*367T>C rs138543179
NM_017668.3(NDE1):c.*898del rs60544332
NM_017668.3(NDE1):c.*898dup rs60544332
NM_017668.3(NDE1):c.*899CA[8] rs34909724
NM_017668.3(NDE1):c.947+6367C>T rs886051728
NM_017668.3(NDE1):c.947+6421_947+6422del rs886051729
NM_017668.3(NDE1):c.947+6469C>A rs573168314
NM_017668.3(NDE1):c.947+6554T>C rs886051731
NM_017668.3(NDE1):c.947+6612A>G rs886051732
NM_017668.3(NDE1):c.947+6655_947+6656del rs768695681
NM_017668.3(NDE1):c.947+7069_947+7073del rs5815842
NM_017668.3(NDE1):c.948-3135C>T rs759760029
NM_017668.3(NDE1):c.948-6837G>A rs886051739

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