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: 24
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_000228.3(LAMB3):c.777C>T (p.Cys259=) rs146529524 0.00047
NM_000228.3(LAMB3):c.582G>T (p.Met194Ile) rs75876132 0.00019
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820 0.00016
NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln) rs144249951 0.00010
NM_000228.3(LAMB3):c.404G>A (p.Arg135His) rs148603717 0.00008
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111 0.00003
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859 0.00001
NM_000228.3(LAMB3):c.405C>T (p.Arg135=) rs1007125449 0.00001
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846 0.00001
NM_000228.2(LAMB3):c.2138_2140delGAG rs1553276448
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn) rs267598351
NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup) rs1553277238
NM_000228.3(LAMB3):c.1727C>T (p.Pro576Leu) rs202063530
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del) rs1553276516
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del) rs745574977
NM_000228.3(LAMB3):c.2873G>A (p.Arg958His) rs142984572
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
NM_000228.3(LAMB3):c.3008G>C (p.Gly1003Ala) rs768371778
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.822+2dup rs1553278151

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