List of variants in gene LAMB3 reported as likely benign for Junctional epidermolysis bullosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000228.2(LAMB3):c.*402C>T	rs12074071	0.00372
NM_000228.3(LAMB3):c.2286C>T (p.Thr762=)	rs11555726	0.00282
NM_000228.3(LAMB3):c.867T>C (p.Asn289=)	rs115579649	0.00254
NM_000228.3(LAMB3):c.3124C>T (p.Arg1042Trp)	rs114040223	0.00132
NM_000228.3(LAMB3):c.1194G>A (p.Gln398=)	rs116602483	0.00103
NM_000228.3(LAMB3):c.2933G>C (p.Gly978Ala)	rs138748613	0.00102
NM_000228.3(LAMB3):c.1413G>A (p.Lys471=)	rs112316651	0.00096
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)	rs115883756	0.00082
NM_000228.3(LAMB3):c.67C>T (p.Arg23Cys)	rs115191959	0.00047
NM_000228.3(LAMB3):c.734G>A (p.Arg245His)	rs114886812	0.00016
NM_000228.3(LAMB3):c.1667G>A (p.Arg556His)	rs371013768	0.00005
NM_000228.3(LAMB3):c.1236A>G (p.Leu412=)	rs202113091	0.00003
NM_000228.3(LAMB3):c.1616G>A (p.Arg539Gln)	rs530692211	0.00003
NM_000228.3(LAMB3):c.*137T>C	rs549169984	0.00001
NM_000228.3(LAMB3):c.*262G>A	rs371579247
NM_000228.3(LAMB3):c.*70G>A	rs368450102

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