List of variants in gene LAMB2 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002292.4(LAMB2):c.249+1G>A	rs779317615	0.00003
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)	rs1377725272	0.00001
NM_002292.4(LAMB2):c.3109+1G>A	rs888830612	0.00001
NM_002292.4(LAMB2):c.3798-1G>C	rs1131690793	0.00001
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)	rs387906644	0.00001
NM_002292.4(LAMB2):c.4573+1G>A	rs1387723456	0.00001
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)	rs121912488	0.00001
NM_002292.4(LAMB2):c.130del (p.Arg44fs)	rs2107645768
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer)	rs2107643014
NM_002292.4(LAMB2):c.1599-1G>T	rs1330915067
NM_002292.4(LAMB2):c.2700_2701del (p.Gly901_Gly902insTer)
NM_002292.4(LAMB2):c.3109+1G>T	rs888830612
NM_002292.4(LAMB2):c.386-11_393del
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)	rs2045366127
NM_002292.4(LAMB2):c.4882dup (p.Ala1628fs)
NM_002292.4(LAMB2):c.4923+2T>G
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg)	rs2045472442

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