ClinVar Miner

List of variants in gene LAMB2 reported as pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter) rs754597019 0.00002
NM_002292.4(LAMB2):c.1648C>T (p.Arg550Ter) rs1218889239 0.00001
NM_002292.4(LAMB2):c.4285C>T (p.Arg1429Ter) rs1437058719 0.00001
NM_002292.4(LAMB2):c.4573+1G>A rs1387723456 0.00001
NM_002292.3(LAMB2):c.1037_1038del rs1170845795
NM_002292.4(LAMB2):c.3207dup (p.Asn1070fs) rs2107638673
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.5260+1G>T

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