ClinVar Miner

List of variants studied for Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) rs144507279 0.00024
NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) rs565980279 0.00002
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
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898

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