ClinVar Miner

List of variants in gene LAMC2 reported as likely pathogenic by Counsyl

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_005562.3(LAMC2):c.1468+1G>T rs1043996591 0.00003
NM_005562.3(LAMC2):c.80-2A>G rs771613805 0.00002
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.1257del (p.Gly421fs) rs1553266433
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs) rs1057516806
NM_005562.3(LAMC2):c.1468+1del rs1553266537
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs) rs1057517353
NM_005562.3(LAMC2):c.1714+2T>C rs1553266671
NM_005562.3(LAMC2):c.1715-1G>A rs774080932
NM_005562.3(LAMC2):c.1715-1G>C rs774080932
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) rs1553266871
NM_005562.3(LAMC2):c.180dup (p.Asp61Ter) rs1553264644
NM_005562.3(LAMC2):c.1858-1G>A rs1057516487
NM_005562.3(LAMC2):c.1970_1971del (p.Glu657fs) rs1057516569
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs) rs778012079
NM_005562.3(LAMC2):c.2014+1G>A rs1553267007
NM_005562.3(LAMC2):c.2220+2T>G rs1553267060
NM_005562.3(LAMC2):c.2348del (p.Glu783fs) rs776142807
NM_005562.3(LAMC2):c.2389_2392del (p.Leu797fs) rs1057516383
NM_005562.3(LAMC2):c.2418_2425dup (p.Asp809fs) rs1553267345
NM_005562.3(LAMC2):c.2456+1G>C rs1553267356
NM_005562.3(LAMC2):c.2541_2542del (p.His847fs) rs1057516727
NM_005562.3(LAMC2):c.2590C>T (p.Gln864Ter) rs151190720
NM_005562.3(LAMC2):c.2602-1G>C rs1553267499
NM_005562.3(LAMC2):c.268+1G>A rs759509443
NM_005562.3(LAMC2):c.2755-2A>G rs1553267554
NM_005562.3(LAMC2):c.2929_2930del (p.Ser977fs) rs1057516935
NM_005562.3(LAMC2):c.3069+1G>C rs1553267638
NM_005562.3(LAMC2):c.3147dup (p.Lys1050fs) rs1057517159
NM_005562.3(LAMC2):c.3223_3224del (p.Gln1075fs) rs1553267679
NM_005562.3(LAMC2):c.3329-2A>G rs1553267870
NM_005562.3(LAMC2):c.3357del (p.Leu1120fs) rs1057516473
NM_005562.3(LAMC2):c.3375_3394del (p.Gln1125fs) rs1553267882
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) rs201307156
NM_005562.3(LAMC2):c.3411del (p.Gln1137fs) rs1553267885
NM_005562.3(LAMC2):c.503+1G>C rs1057516410
NM_005562.3(LAMC2):c.504-2A>C rs1553265770
NM_005562.3(LAMC2):c.537del (p.Asn180fs) rs745512079
NM_005562.3(LAMC2):c.559_560insAA (p.Cys187Ter) rs1057516444
NM_005562.3(LAMC2):c.640+2T>A rs1553265794
NM_005562.3(LAMC2):c.641-2A>G rs1553265902
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_005562.3(LAMC2):c.709C>T (p.Gln237Ter) rs757617349
NM_005562.3(LAMC2):c.877_878del (p.Gly293fs) rs1057516218
NM_005562.3(LAMC2):c.953+1G>A rs1553266052
NM_005562.3(LAMC2):c.954-2A>T rs1553266260

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