List of variants in gene WASHC5 studied 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
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_014846.4(WASHC5):c.2489G>A (p.Arg830Gln)	rs749703625	0.00004
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys)	rs780719370	0.00003
NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp)	rs765982075	0.00001
NM_014846.4(WASHC5):c.1102_1103del (p.Asp368fs)
NM_014846.4(WASHC5):c.1133T>G (p.Leu378Arg)	rs758822672
NM_014846.4(WASHC5):c.1136A>G (p.His379Arg)
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	rs1554593901
NM_014846.4(WASHC5):c.1859T>C (p.Val620Ala)
NM_014846.4(WASHC5):c.210del (p.Lys70fs)
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter)	rs1586390087
NM_014846.4(WASHC5):c.2429A>T (p.Lys810Met)	rs780468544
NM_014846.4(WASHC5):c.2836G>A (p.Glu946Lys)
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg)	rs1815967070
NM_014846.4(WASHC5):c.2954+3_2954+4delinsCG
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)	rs148562491

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