List of variants reported as pathogenic for Lamb-Shaffer syndrome by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000012.11:g.23979791_24033225del
NC_000012.12:g.23484745_23564581del
NC_000012.12:g.23488792_23626279del
NC_000012.12:g.23771866_23888764del
NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter)	rs869025321

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