ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.987+5A>G rs4785691

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