ClinVar Miner

List of variants in gene LAMB2 reported as benign for Pierson syndrome

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Total variants: 20
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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.1764C>T (p.Pro588=) rs33942096 0.01677
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152 0.01347
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458 0.01273
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.3110-15T>C rs147446447 0.00622
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433 0.00463
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861 0.00036
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.5026G>A (p.Gly1676Arg) rs200747448 0.00002
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679 0.00002

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