ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by OMIM

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Total variants: 13
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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.233T>A (p.Leu78Ter) rs121918358 0.00014
NC_000016.10:g.(89559945_?)_(?_89549777)del
NM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCT
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1739TGG[1] (p.Val581del) rs1597661607
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003119.4(SPG7):c.2T>G (p.Met1Arg)
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) rs768595656

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