ClinVar Miner

List of variants reported as uncertain significance for Hereditary spastic paraplegia 48 by Revvity Omics, Revvity

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Total variants: 9
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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.1091T>C (p.Val364Ala)
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.988C>G (p.Leu330Val)

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