ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia 7

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Total variants: 20
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HGVS dbSNP
NC_000016.9:g.(?_89576878)_(89579465_?)dup
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.[1529C>T];[2120delTinsCCAAGTCTGTA]
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) rs72547552
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val) rs1597665080
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365
NM_003119.4(SPG7):c.2103+2_2103+20del
NM_003119.4(SPG7):c.2104-2A>G rs1567934754
NM_003119.4(SPG7):c.2271del (p.Met757fs) rs1217391623
NM_003119.4(SPG7):c.286+1G>T
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003119.4(SPG7):c.759-2A>G
NM_003119.4(SPG7):c.861+1G>C rs1412575396
NM_003119.4(SPG7):c.861+1G>T rs1412575396
NM_003119.4(SPG7):c.976_987+3del rs878854606

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