List of variants in gene LAMB3 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
NM_000228.3(LAMB3):c.2702-12dup	rs397807887	0.95488
NM_000228.3(LAMB3):c.-37-381T>A	rs10779510	0.87193
NM_000228.3(LAMB3):c.823-15C>T	rs4844863	0.84219
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=)	rs2179402	0.74805
NM_000228.3(LAMB3):c.184-70A>G	rs2076357	0.57810
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.2909+182C>T	rs2076221	0.35189
NM_000228.3(LAMB3):c.3383-334C>T	rs2076227	0.33839
NM_000228.3(LAMB3):c.384C>T (p.Pro128=)	rs1130667	0.30741
NM_000228.3(LAMB3):c.1976+169T>C	rs4844860	0.29396
NM_000228.3(LAMB3):c.2910-169G>A	rs2076220	0.29074
NM_000228.3(LAMB3):c.1976+222C>T	rs9430008	0.28860
NM_000228.3(LAMB3):c.298+50T>A	rs2076355	0.28812
NM_000228.3(LAMB3):c.2556+60C>T	rs3737913	0.27290
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.28+292G>A	rs2076359	0.25084
NM_000228.3(LAMB3):c.-37-573C>T	rs3753522	0.25081
NM_000228.3(LAMB3):c.28+326C>T	rs2076358	0.25077
NM_000228.3(LAMB3):c.564+286C>T	rs12137442	0.16127
NM_000228.3(LAMB3):c.-37-500C>T	rs3753523	0.15286
NM_000228.3(LAMB3):c.1133-172A>G	rs2076353	0.13166
NM_000228.3(LAMB3):c.1486-18G>A	rs2076350	0.12625
NM_000228.3(LAMB3):c.1289-52G>A	rs2072938	0.12083
NM_000228.3(LAMB3):c.184-286A>G	rs10127604	0.11453
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.1132+124G>A	rs12567766	0.08521
NM_000228.3(LAMB3):c.1149G>A (p.Pro383=)	rs2076351	0.05772
NM_000228.3(LAMB3):c.943+52C>G	rs34311919	0.05174
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.1288+29G>A	rs75181751	0.03477
NM_000228.3(LAMB3):c.564+250C>T	rs75509432	0.03211
NM_000228.3(LAMB3):c.2702-14G>A	rs199838217	0.02820
NM_000228.3(LAMB3):c.822+296A>T	rs963436	0.02764
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=)	rs2229465	0.02743
NM_000228.3(LAMB3):c.943+18C>A	rs7550377	0.02735
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp)	rs2076222	0.02691
NM_000228.3(LAMB3):c.2910-115C>T	rs2076219	0.02684
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=)	rs2072937	0.02665
NM_000228.3(LAMB3):c.1133-34T>C	rs2076352	0.02654
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.28+88G>A	rs58281786	0.01925
NM_000228.3(LAMB3):c.1289-150C>T	rs113875858	0.01908
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile)	rs61753424	0.01891
NM_000228.3(LAMB3):c.3383-58G>A	rs77567304	0.01856
NM_000228.3(LAMB3):c.2556+13G>A	rs113339950	0.01851
NM_000228.3(LAMB3):c.2909+194C>T	rs6674461	0.01728
NM_000228.3(LAMB3):c.2138-24C>T	rs140439614	0.01535
NM_000228.3(LAMB3):c.2542C>T (p.Arg848Trp)	rs59260335	0.01279
NM_000228.3(LAMB3):c.372+10C>T	rs192386323	0.00302
NM_000228.3(LAMB3):c.-37-26A>T	rs145315604	0.00153
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=)	rs115883756	0.00082
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.1978C>T (p.Arg660Ter)	rs146794392	0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter)	rs201551805	0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)	rs80356681	0.00005
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	rs747916314	0.00003
NM_000228.3(LAMB3):c.565-2A>G	rs370148688	0.00003
NM_000228.3(LAMB3):c.1063T>C (p.Cys355Arg)	rs532875477	0.00002
NM_000228.3(LAMB3):c.1132+5G>A	rs770302956	0.00002
NM_000228.3(LAMB3):c.285G>A (p.Trp95Ter)	rs1558163550	0.00001
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter)	rs759518184	0.00001
NM_000228.3(LAMB3):c.628+1G>A	rs1057516539	0.00001
NM_000228.3(LAMB3):c.628G>A (p.Glu210Lys)	rs121912482	0.00001
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	rs774174881
NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)	rs1057517096
NM_000228.3(LAMB3):c.1127G>C (p.Cys376Ser)	rs1085307994
NM_000228.3(LAMB3):c.1289-186G>A	rs61822212
NM_000228.3(LAMB3):c.1522G>A (p.Gly508Ser)
NM_000228.3(LAMB3):c.184-335C>T	rs9430010
NM_000228.3(LAMB3):c.184-335del	rs10712661
NM_000228.3(LAMB3):c.2275G>T (p.Gly759Ter)	rs780424034
NM_000228.3(LAMB3):c.2288del (p.Gly763fs)	rs886041893
NM_000228.3(LAMB3):c.2346del (p.Thr783fs)	rs1057516486
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter)	rs1064793896
NM_000228.3(LAMB3):c.2533C>T (p.Gln845Ter)	rs1571804681
NM_000228.3(LAMB3):c.2777C>G (p.Ala926Gly)	rs2076222
NM_000228.3(LAMB3):c.28+163C>G	rs2076360
NM_000228.3(LAMB3):c.2842del (p.Val948fs)	rs772421306
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	rs777672897
NM_000228.3(LAMB3):c.3281_3284delinsC (p.Gln1094_Ser1095delinsPro)	rs2102403507
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)	rs1553275034
NM_000228.3(LAMB3):c.499_500del (p.Ser167fs)	rs1057516241
NM_000228.3(LAMB3):c.822+33G>C	rs2072940
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)

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