List of variants in gene WASHC5 studied for Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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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