ClinVar Miner

List of variants in gene LAMB3 reported as pathogenic for Junctional epidermolysis bullosa, non-Herlitz type

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) rs769967565 0.00004
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_000228.3(LAMB3):c.628+42G>A rs587776812 0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys) rs121912482 0.00001
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) rs1057517096
NM_000228.3(LAMB3):c.1439_1443del (p.Pro480fs) rs786205095
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3247C>T (p.Gln1083Ter) rs2102403618
NM_000228.3(LAMB3):c.565-3T>C rs587776813
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.619A>C (p.Lys207Gln) rs121912487
NM_000228.3(LAMB3):c.629-1G>A rs587776814
NM_000228.3(LAMB3):c.76dup (p.Cys26fs) rs1553281335
NM_000228.3(LAMB3):c.904del (p.Trp302fs) rs786205094

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