List of variants studied for Hereditary spastic paraplegia 48 by Revvity Omics, Revvity

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu)	rs750796286	0.00007
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn)	rs748108455	0.00007
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys)	rs199745141	0.00006
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)	rs1045333933	0.00002
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)	rs376075583	0.00001
NM_014855.3(AP5Z1):c.1091T>C (p.Val364Ala)
NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter)	rs1233553130
NM_014855.3(AP5Z1):c.1643G>A (p.Arg548His)	rs200224845
NM_014855.3(AP5Z1):c.1990G>A (p.Val664Met)
NM_014855.3(AP5Z1):c.969+3_969+6dup	rs748280348
NM_014855.3(AP5Z1):c.970-2_983del	rs1562408256
NM_014855.3(AP5Z1):c.988C>G (p.Leu330Val)

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