List of variants in gene LAMB3 reported as 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: 32

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HGVS	dbSNP	gnomAD frequency
NM_000228.3(LAMB3):c.2702-12dup	rs397807887	0.95488
NM_000228.3(LAMB3):c.823-15C>T	rs4844863	0.84219
NM_000228.2(LAMB3):c.*403A>G	rs926387	0.75295
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)	rs2179402	0.74805
NM_000228.3(LAMB3):c.291A>C (p.Ser97=)	rs2076356	0.56410
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=)	rs1049607	0.44327
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)	rs1130667	0.30741
NM_000228.3(LAMB3):c.*102C>T	rs2566	0.27226
NM_000228.3(LAMB3):c.138C>T (p.Thr46=)	rs2228339	0.25110
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met)	rs2076349	0.12644
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=)	rs3179860	0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu)	rs12748250	0.11215
NM_000228.3(LAMB3):c.1149G>A (p.Pro383=)	rs2076351	0.05772
NM_000228.3(LAMB3):c.1312T>A (p.Ser438Thr)	rs2229468	0.04067
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=)	rs2228342	0.03922
NM_000228.3(LAMB3):c.2702-14G>A	rs199838217	0.02820
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)	rs2229465	0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)	rs2076222	0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)	rs2072937	0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser)	rs2229466	0.02614
NM_000228.3(LAMB3):c.541A>G (p.Asn181Asp)	rs2235542	0.02610
NM_000228.3(LAMB3):c.564+10G>A	rs12410975	0.02306
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile)	rs61753424	0.01891
NM_000228.3(LAMB3):c.2556+13G>A	rs113339950	0.01851
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp)	rs59260335	0.01279
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His)	rs52814161	0.01066
NM_000228.3(LAMB3):c.2260C>T (p.Arg754Trp)	rs62637710	0.00948
NM_000228.3(LAMB3):c.689G>C (p.Arg230Thr)	rs61734502	0.00697
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu)	rs61734494	0.00363
NM_000228.3(LAMB3):c.372+10C>T	rs192386323	0.00302
NM_000228.3(LAMB3):c.2359-15G>A	rs147708427	0.00111
NM_000228.3(LAMB3):c.2403C>T (p.Cys801=)	rs115279528	0.00017

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