List of variants reported as likely pathogenic for Ritscher-Schinzel syndrome 1

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Total variants: 13

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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.2505-1G>C	rs953586472	0.00001
NC_000008.10:g.(?_126079753)_(126096155_?)del
NM_014846.4(WASHC5):c.1151-2A>G	rs1563627853
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	rs1554593901
NM_014846.4(WASHC5):c.1859T>C (p.Val620Ala)
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)	rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)	rs397515564
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.3182-2A>G
NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)

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