ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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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.1172G>A (p.Arg391Gln)	rs778409451	0.00004
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg)	rs1306012072	0.00003
NM_003119.4(SPG7):c.1150+17G>A	rs2058351380

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