ClinVar Miner

List of variants reported as likely pathogenic for Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 by Invitae

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.2507-1G>A
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.547+1G>A	rs762425885
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)

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