ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 7 by Institute of Human Genetics, University Hospital of Duesseldorf

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	rs752623413	0.00006
NM_003119.4(SPG7):c.861+2dup	rs771256761	0.00004

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