ClinVar Miner

List of variants studied for Pierson syndrome by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp) rs121912488 0.00001
NM_002292.4(LAMB2):c.1122T>A (p.Cys374Ter) rs121912490
NM_002292.4(LAMB2):c.2067C>G (p.Tyr689Ter) rs121912489
NM_002292.4(LAMB2):c.3015del (p.Gln1006fs) rs1560072794
NM_002292.4(LAMB2):c.5258dup (p.Glu1754fs) rs1560063136

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