ClinVar Miner

List of variants in gene SPG7 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Gene type:
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Total variants: 3
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HGVS dbSNP
GRCh37/hg19 16q24.3(chr16:89616901-89620368)
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392

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