ClinVar Miner

List of variants in gene LAMB1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_002291.3(LAMB1):c.680T>C (p.Leu227Ser) rs139759735 0.00128
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) rs139487685 0.00121
NM_002291.3(LAMB1):c.2411A>G (p.Asn804Ser) rs145729606 0.00037
NM_002291.3(LAMB1):c.3299C>T (p.Thr1100Met) rs145485632 0.00036
NM_002291.3(LAMB1):c.835G>A (p.Glu279Lys) rs571064446 0.00024
NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys) rs146045042 0.00022
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys) rs139568495 0.00020
NM_002291.3(LAMB1):c.2604G>C (p.Gln868His) rs186548567 0.00016
NM_002291.3(LAMB1):c.2743C>T (p.Arg915Cys) rs745741181 0.00015
NM_002291.3(LAMB1):c.4746-3C>A rs200654865 0.00013
NM_002291.3(LAMB1):c.4075G>A (p.Val1359Met) rs200248912 0.00011
NM_002291.3(LAMB1):c.4189A>G (p.Thr1397Ala) rs148726981 0.00011
NM_002291.3(LAMB1):c.546G>C (p.Met182Ile) rs755969649 0.00010
NM_002291.3(LAMB1):c.2942A>T (p.Asn981Ile) rs774187408 0.00009
NM_002291.3(LAMB1):c.145A>G (p.Lys49Glu) rs767769822 0.00007
NM_002291.3(LAMB1):c.5225-8C>A rs778153007 0.00007
NM_002291.3(LAMB1):c.3206C>T (p.Ala1069Val) rs373108911 0.00006
NM_002291.3(LAMB1):c.350-7C>G rs1352089195 0.00006
NM_002291.3(LAMB1):c.4745G>T (p.Ser1582Ile) rs747370433 0.00006
NM_002291.3(LAMB1):c.1069G>A (p.Val357Ile) rs200303288 0.00005
NM_002291.3(LAMB1):c.1382A>G (p.Asn461Ser) rs200749474 0.00005
NM_002291.3(LAMB1):c.1708A>G (p.Ile570Val) rs529379106 0.00005
NM_002291.3(LAMB1):c.2036C>T (p.Thr679Met) rs373152146 0.00005
NM_002291.3(LAMB1):c.3992C>G (p.Ala1331Gly) rs201636713 0.00005
NM_002291.3(LAMB1):c.1769G>A (p.Arg590Gln) rs756288014 0.00004
NM_002291.3(LAMB1):c.3233G>C (p.Gly1078Ala) rs757119614 0.00004
NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly) rs374245297 0.00004
NM_002291.3(LAMB1):c.2779C>T (p.Arg927Cys) rs780057144 0.00003
NM_002291.3(LAMB1):c.4310C>G (p.Ala1437Gly) rs978244314 0.00003
NM_002291.3(LAMB1):c.55G>A (p.Val19Met) rs757479645 0.00003
NM_002291.3(LAMB1):c.1912C>A (p.Pro638Thr) rs747176258 0.00002
NM_002291.3(LAMB1):c.2270A>C (p.Asn757Thr) rs761321107 0.00002
NM_002291.3(LAMB1):c.3700C>G (p.Leu1234Val) rs748765397 0.00002
NM_002291.3(LAMB1):c.860A>G (p.Asn287Ser) rs984431430 0.00002
NM_002291.3(LAMB1):c.1136C>T (p.Pro379Leu) rs1225946964 0.00001
NM_002291.3(LAMB1):c.1693G>A (p.Gly565Arg) rs1027795897 0.00001
NM_002291.3(LAMB1):c.1826A>C (p.Glu609Ala) rs907704528 0.00001
NM_002291.3(LAMB1):c.1844G>A (p.Arg615His) rs371422520 0.00001
NM_002291.3(LAMB1):c.1864G>A (p.Asp622Asn) rs765775010 0.00001
NM_002291.3(LAMB1):c.2223G>T (p.Glu741Asp) rs754141476 0.00001
NM_002291.3(LAMB1):c.3011C>T (p.Thr1004Met) rs780437284 0.00001
NM_002291.3(LAMB1):c.3331G>C (p.Gly1111Arg) rs554118055 0.00001
NM_002291.3(LAMB1):c.3847A>G (p.Lys1283Glu) rs759892646 0.00001
NM_002291.3(LAMB1):c.414G>A (p.Met138Ile) rs778474120 0.00001
NM_002291.3(LAMB1):c.4643G>A (p.Arg1548His) rs201609456 0.00001
NM_002291.3(LAMB1):c.4733C>A (p.Ala1578Asp) rs2116320181 0.00001
NM_002291.3(LAMB1):c.4825G>A (p.Ala1609Thr) rs41281045 0.00001
NM_002291.3(LAMB1):c.544A>G (p.Met182Val) rs777529426 0.00001
NM_002291.3(LAMB1):c.1602C>A (p.His534Gln)
NM_002291.3(LAMB1):c.1924C>G (p.Arg642Gly)
NM_002291.3(LAMB1):c.2126A>G (p.Tyr709Cys) rs2150428038
NM_002291.3(LAMB1):c.2534G>T (p.Gly845Val) rs199766322
NM_002291.3(LAMB1):c.2591G>C (p.Cys864Ser)
NM_002291.3(LAMB1):c.2591G>T (p.Cys864Phe) rs756136311
NM_002291.3(LAMB1):c.2896C>A (p.Pro966Thr) rs748512722
NM_002291.3(LAMB1):c.2921A>C (p.Gln974Pro)
NM_002291.3(LAMB1):c.2924C>T (p.Pro975Leu)
NM_002291.3(LAMB1):c.2951C>T (p.Thr984Met) rs373568948
NM_002291.3(LAMB1):c.2964A>T (p.Glu988Asp) rs2033308916
NM_002291.3(LAMB1):c.3077G>A (p.Arg1026Gln) rs193010498
NM_002291.3(LAMB1):c.3294G>A (p.Glu1098=) rs2116395702
NM_002291.3(LAMB1):c.3460G>T (p.Val1154Phe) rs146247883
NM_002291.3(LAMB1):c.3532C>A (p.Pro1178Thr) rs2116353624
NM_002291.3(LAMB1):c.3553C>T (p.Leu1185Phe) rs2116353555
NM_002291.3(LAMB1):c.3813A>C (p.Leu1271Phe) rs1301763039
NM_002291.3(LAMB1):c.4094C>T (p.Ser1365Phe)
NM_002291.3(LAMB1):c.4201C>T (p.Pro1401Ser) rs1562974794
NM_002291.3(LAMB1):c.4700A>C (p.Asp1567Ala)
NM_002291.3(LAMB1):c.4727AAG[1] (p.Glu1577del) rs1336466071
NM_002291.3(LAMB1):c.4802A>G (p.Glu1601Gly) rs2535624547
NM_002291.3(LAMB1):c.484G>C (p.Val162Leu)
NM_002291.3(LAMB1):c.5147G>A (p.Arg1716Lys) rs1336246017

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