ClinVar Miner

List of variants in gene SPG7 reported as likely pathogenic by GeneDx

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Total variants: 15
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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.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
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.524T>C (p.Leu175Pro) rs149797758
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) rs1235945505
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) rs1131691968

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