ClinVar Miner

List of variants studied for Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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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

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