ClinVar Miner

List of variants in gene SPG7 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1493T>C (p.Leu498Pro) rs886043594
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn) rs143294686
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) rs770487062
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296

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