ClinVar Miner

List of variants in gene LAMB2 reported by GeneDx

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.1890+25G>A rs9865051 0.81883
NM_002292.4(LAMB2):c.2959G>A (p.Glu987Lys) rs34759087 0.09080
NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=) rs34290943 0.09068
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889 0.03588
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908 0.02014
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356 0.01940
NM_002292.4(LAMB2):c.3327+28T>C rs79205978 0.01678
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096 0.01677
NM_002292.4(LAMB2):c.4923+17A>G rs116836607 0.01580
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
NC_000003.12:g.49133424C>T rs142455340 0.01189
NM_002292.4(LAMB2):c.4924-35G>A rs72936885 0.00838
NM_002292.4(LAMB2):c.2152-36G>A rs112006658 0.00813
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937 0.00775
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322 0.00741
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635 0.00663
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640 0.00662
NM_002292.4(LAMB2):c.3328-36T>G rs143016594 0.00644
NM_002292.4(LAMB2):c.3110-15T>C rs147446447 0.00622
NM_002292.4(LAMB2):c.5261-27C>G rs150654930 0.00434
NM_002292.4(LAMB2):c.5260+34G>A rs115838211 0.00372
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly) rs112933248 0.00076
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp) rs144133177 0.00071
NM_002292.4(LAMB2):c.5039C>T (p.Ala1680Val) rs141473691 0.00033
NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg) rs28364667 0.00030
NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) rs148818522 0.00029
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp) rs202057459 0.00024
NM_002292.4(LAMB2):c.4148A>G (p.His1383Arg) rs754983373 0.00014
NM_002292.4(LAMB2):c.800G>A (p.Arg267Gln) rs772368832 0.00006
NM_002292.4(LAMB2):c.1015G>A (p.Gly339Ser) rs376294474 0.00004
NM_002292.4(LAMB2):c.2089C>T (p.Arg697Trp) rs149304508 0.00004
NM_002292.4(LAMB2):c.249+1G>A rs779317615 0.00003
NM_002292.4(LAMB2):c.646G>A (p.Glu216Lys) rs368339529 0.00003
NM_002292.4(LAMB2):c.1981G>A (p.Asp661Asn) rs1424372955 0.00001
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile) rs527639885 0.00001
NM_002292.4(LAMB2):c.4573+1G>A rs1387723456 0.00001
NM_002292.4(LAMB2):c.872A>G (p.Glu291Gly) rs757452525 0.00001
NM_002292.4(LAMB2):c.1937G>A (p.Gly646Glu)
NM_002292.4(LAMB2):c.2018+95C>T
NM_002292.4(LAMB2):c.261G>A (p.Lys87=) rs149408554
NM_002292.4(LAMB2):c.261G>C (p.Lys87Asn) rs149408554
NM_002292.4(LAMB2):c.4224+19G>A rs114913744
NM_002292.4(LAMB2):c.4611_4621del (p.Thr1538fs) rs1384293775
NM_002292.4(LAMB2):c.4822C>T (p.Gln1608Ter) rs777742373
NM_002292.4(LAMB2):c.934T>C (p.Cys312Arg) rs1057524235
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) rs2045472442

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