ClinVar Miner

List of variants studied for Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) rs754463353 0.00001
NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) rs753529606 0.00001
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853

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