ClinVar Miner

List of variants in gene SPG7 reported as likely pathogenic

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Total variants: 33
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HGVS dbSNP
GRCh37/hg19 16q24.3(chr16:89616901-89620368)
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.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) rs863224220
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
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.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1937-2A>G rs568556987
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.4(SPG7):c.2104-2A>G rs1567934754
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) rs149797758
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) rs1235945505
NM_003119.4(SPG7):c.861+1G>C rs1412575396
NM_003119.4(SPG7):c.861+1G>T rs1412575396
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) rs1131691968
NM_003119.4(SPG7):c.976_987+3del rs878854606

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