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

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)	rs730880125	0.00006
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)	rs121912488	0.00001
NM_002292.3(LAMB2):c.[1307delG];[3798-1G>C]
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter)	rs121912490
NM_002292.4(LAMB2):c.1405+1G>A
NM_002292.4(LAMB2):c.1405C>T (p.Arg469Ter)
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter)	rs121912489
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs)	rs1560072794
NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter)	rs974891221
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs)	rs1560063136

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