ClinVar Miner

List of variants studied for Adult-onset autosomal dominant demyelinating leukodystrophy by Illumina Laboratory Services, Illumina

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_005573.4(LMNB1):c.*43T>C rs1051643 0.66941
NM_005573.4(LMNB1):c.*239C>T rs1051644 0.42884
NM_005573.4(LMNB1):c.*18C>T rs2230151 0.05698
NM_005573.4(LMNB1):c.-298G>T rs111865788 0.05448
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=) rs3749830 0.05426
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=) rs6875053 0.03827
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_005573.4(LMNB1):c.*503A>T rs181936031 0.02624
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) rs36105360 0.01478
NM_005573.4(LMNB1):c.279C>T (p.Leu93=) rs74362780 0.00909
NM_005573.4(LMNB1):c.*691A>G rs77429268 0.00356
NM_005573.4(LMNB1):c.*284T>G rs550205958 0.00297
NM_005573.4(LMNB1):c.852T>C (p.Ser284=) rs61726489 0.00288
NM_005573.4(LMNB1):c.1492-11G>T rs201050320 0.00120
NM_005573.4(LMNB1):c.*54A>T rs370551700 0.00099
NM_005573.4(LMNB1):c.*15T>C rs140296800 0.00073
NM_005573.4(LMNB1):c.60G>A (p.Thr20=) rs755396585 0.00058
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_005573.4(LMNB1):c.642+10T>C rs200907573 0.00031
NM_005573.4(LMNB1):c.-314C>T rs561989552 0.00029
NM_005573.4(LMNB1):c.141C>T (p.Ile47=) rs755177047 0.00014
NM_005573.4(LMNB1):c.*270T>C rs1021872186 0.00013
NM_005573.4(LMNB1):c.*301T>C rs960666703 0.00011
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) rs994236399 0.00005
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His) rs746416284 0.00005
NM_005573.4(LMNB1):c.*518T>C rs185784874 0.00004
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=) rs886059858 0.00003
NM_005573.4(LMNB1):c.672A>G (p.Glu224=) rs372510778 0.00003
NM_005573.4(LMNB1):c.1161-6A>G rs765920630 0.00002
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn) rs150504258 0.00002
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) rs374998378 0.00002
NM_005573.4(LMNB1):c.*640G>A rs1294635743 0.00001
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys) rs771251880 0.00001
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) rs575662572 0.00001
NM_005573.4(LMNB1):c.*189T>G rs1752249694
NM_005573.4(LMNB1):c.*629G>A rs761208282
NM_005573.4(LMNB1):c.*629G>C rs761208282
NM_005573.4(LMNB1):c.*631G>A rs569902214
NM_005573.4(LMNB1):c.*634A>G rs1382551348
NM_005573.4(LMNB1):c.-159C>G rs886059857
NM_005573.4(LMNB1):c.-76G>T rs1371898314
NM_005573.4(LMNB1):c.1387-3T>C rs886059859
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) rs1751792373

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