List of variants reported as pathogenic for Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014846.4(WASHC5):c.2008C>T (p.Arg670Ter)	rs762401591	0.00001
NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter)	rs1462319941	0.00001
NM_014846.4(WASHC5):c.1368del (p.Ser458fs)
NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter)	rs1030054011
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)	rs1554593901
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)	rs1554593899
NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)	rs80338866
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)	rs80338867
NM_014846.4(WASHC5):c.2438_2439del (p.Pro813fs)
NM_014846.4(WASHC5):c.2595_2599del (p.Gln865fs)
NM_014846.4(WASHC5):c.3024_3025del (p.Leu1009fs)	rs765926045
NM_014846.4(WASHC5):c.633T>G (p.Tyr211Ter)
NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter)	rs1563633906
NM_014846.4(WASHC5):c.913G>T (p.Glu305Ter)	rs377540152

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