ClinVar Miner

List of variants in gene LAMC2 reported as uncertain significance for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 7
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HGVS dbSNP
NM_005562.3(LAMC2):c.-15C>T rs762430522
NM_005562.3(LAMC2):c.2413_2421del (p.Ser805_Ser807del) rs1553267343
NM_005562.3(LAMC2):c.2456+2dup rs1553267357
NM_005562.3(LAMC2):c.2708_2710AAG[2] (p.Glu905del) rs1179496469
NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del) rs1553267617
NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp) rs563159537
NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp) rs147959853

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