ClinVar Miner

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

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Gene type:
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Total variants: 19
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NM_000228.2(LAMB3):c.957_958ins77 (p.?)
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs) rs1553277267
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1587_1588del (p.Gly530fs) rs769151482
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.3(LAMB3):c.1830G>A (p.Trp610Ter) rs121912484
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) rs146794392
NM_000228.3(LAMB3):c.2806C>T (p.Gln936Ter) rs121912485
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.429G>A (p.Trp143Ter)
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184
NM_000228.3(LAMB3):c.496C>T (p.Gln166Ter) rs121912483
NM_000228.3(LAMB3):c.565-2A>G rs370148688
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702

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