ClinVar Miner

List of variants in gene LAMB3 reported as uncertain significance for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 16
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NM_000228.2(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820
NM_000228.2(LAMB3):c.1150G>A (p.Asp384Asn) rs267598351
NM_000228.2(LAMB3):c.1459_1461dup (p.Asn487_Ser488insAsn) rs1553277238
NM_000228.2(LAMB3):c.2027_2029delTGT (p.Leu676del) rs1553276516
NM_000228.2(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111
NM_000228.2(LAMB3):c.2138_2140delGAG (p.Gly713del) rs1553276448
NM_000228.2(LAMB3):c.2277_2282dup (p.Gly761_Thr762insGlyGly) rs752460751
NM_000228.2(LAMB3):c.2280_2282dup (p.Gly761_Thr762insGly) rs752460751
NM_000228.2(LAMB3):c.2864_2890del27 (p.Asp955_Gln963del) rs745574977
NM_000228.2(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823
NM_000228.2(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.2(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
NM_000228.2(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859
NM_000228.2(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.2(LAMB3):c.822+2dup rs1553278151
NM_000228.2(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846

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