ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	rs61755320	0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)	rs141659620	0.00103
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)	rs760818649
NM_003119.4(SPG7):c.184-4del	rs5818722
NM_003119.4(SPG7):c.784G>C (p.Ala262Pro)	rs2152402052

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