List of variants in gene WASHC5 reported as pathogenic for Ritscher-Schinzel syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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.210del (p.Lys70fs)
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter)	rs1586390087

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