ClinVar Miner

List of variants in gene LMX1B reported as pathogenic for not provided

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
NC_000009.11:g.(?_129376729)_(129377858_?)del
NC_000009.11:g.(?_129376729)_(129377868_?)del
NC_000009.11:g.(?_129376729)_(129458730_?)del
NC_000009.11:g.(?_129377642)_(129377868_?)del
NC_000009.11:g.(?_129453095)_(129458730_?)del
NC_000009.12:g.126615383del
NM_001174147.2(LMX1B):c.130dup (p.Val44fs)
NM_001174147.2(LMX1B):c.140-1G>A
NM_001174147.2(LMX1B):c.169G>T (p.Glu57Ter) rs1588257904
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
NM_001174147.2(LMX1B):c.178C>T (p.Gln60Ter) rs2118823223
NM_001174147.2(LMX1B):c.207dup (p.Arg70fs) rs2118823366
NM_001174147.2(LMX1B):c.208C>T (p.Arg70Ter) rs2118823374
NM_001174147.2(LMX1B):c.209del (p.Arg70fs)
NM_001174147.2(LMX1B):c.217G>T (p.Glu73Ter)
NM_001174147.2(LMX1B):c.217del (p.Glu73fs) rs2118823413
NM_001174147.2(LMX1B):c.227G>A (p.Trp76Ter) rs886039574
NM_001174147.2(LMX1B):c.235G>T (p.Glu79Ter) rs745711468
NM_001174147.2(LMX1B):c.242T>G (p.Leu81Trp) rs1835285672
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) rs121909489
NM_001174147.2(LMX1B):c.249C>G (p.Cys83Trp)
NM_001174147.2(LMX1B):c.258T>A (p.Cys86Ter)
NM_001174147.2(LMX1B):c.259_304del (p.Gln87fs)
NM_001174147.2(LMX1B):c.262C>T (p.Gln88Ter)
NM_001174147.2(LMX1B):c.271_272del (p.Thr91fs)
NM_001174147.2(LMX1B):c.285C>G (p.Tyr95Ter) rs2118823701
NM_001174147.2(LMX1B):c.285_289del (p.Tyr95_Arg97delinsTer) rs1057520178
NM_001174147.2(LMX1B):c.289_291del (p.Arg97del) rs2118823763
NM_001174147.2(LMX1B):c.297del (p.Lys100fs) rs2118823819
NM_001174147.2(LMX1B):c.303_304del (p.Tyr102fs)
NM_001174147.2(LMX1B):c.321C>G (p.Tyr107Ter) rs1835287345
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter) rs1835287406
NM_001174147.2(LMX1B):c.326+1G>A
NM_001174147.2(LMX1B):c.326+1G>C rs1835287461
NM_001174147.2(LMX1B):c.327-2A>G rs2118986578
NM_001174147.2(LMX1B):c.332del (p.Phe111fs) rs2118986608
NM_001174147.2(LMX1B):c.346_347insT (p.Ser116fs) rs2118986658
NM_001174147.2(LMX1B):c.351_355dup (p.Met119fs) rs2118986709
NM_001174147.2(LMX1B):c.398_399dup (p.Cys134fs) rs2118986877
NM_001174147.2(LMX1B):c.407_421del (p.Tyr136_Cys140del) rs2118986919
NM_001174147.2(LMX1B):c.408C>G (p.Tyr136Ter)
NM_001174147.2(LMX1B):c.419G>T (p.Cys140Phe) rs2118986952
NM_001174147.2(LMX1B):c.428G>A (p.Cys143Tyr)
NM_001174147.2(LMX1B):c.437G>A (p.Cys146Tyr)
NM_001174147.2(LMX1B):c.445C>T (p.Gln149Ter) rs2118987040
NM_001174147.2(LMX1B):c.479_486del (p.Glu160fs)
NM_001174147.2(LMX1B):c.484C>T (p.Gln162Ter) rs2118987177
NM_001174147.2(LMX1B):c.491T>C (p.Leu164Pro)
NM_001174147.2(LMX1B):c.507C>G (p.Tyr169Ter)
NM_001174147.2(LMX1B):c.600_604dup (p.Gln202fs)
NM_001174147.2(LMX1B):c.623del (p.Gly208fs) rs2118991726
NM_001174147.2(LMX1B):c.661C>T (p.Arg221Ter) rs121909487
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
NM_001174147.2(LMX1B):c.667del (p.Arg223fs) rs1564169730
NM_001174147.2(LMX1B):c.668G>A (p.Arg223Gln) rs121909491
NM_001174147.2(LMX1B):c.679_680del (p.Thr227fs)
NM_001174147.2(LMX1B):c.691C>T (p.Arg231Ter) rs121909490
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln) rs1191455921
NM_001174147.2(LMX1B):c.739A>T (p.Lys247Ter) rs2118992231
NM_001174147.2(LMX1B):c.741+1G>T rs1427331961
NM_001174147.2(LMX1B):c.745C>T (p.Arg249Ter) rs121909492
NM_001174147.2(LMX1B):c.748G>T (p.Glu250Ter) rs2118992752
NM_001174147.2(LMX1B):c.750_751del (p.Glu250fs) rs2118992738
NM_001174147.2(LMX1B):c.776dup (p.Ser259fs)
NM_001174147.2(LMX1B):c.781C>T (p.Arg261Cys) rs886039576
NM_001174147.2(LMX1B):c.801del (p.Gln268fs)
NM_001174147.2(LMX1B):c.807C>A (p.Asn269Lys) rs121909486
NM_001174147.2(LMX1B):c.819+2T>G rs2118992878
NM_001174147.2(LMX1B):c.820-1G>A
NM_001174147.2(LMX1B):c.844C>T (p.Gln282Ter) rs2118993320
NM_001174147.2(LMX1B):c.871C>T (p.Gln291Ter)

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