ClinVar Miner

List of variants reported as pathogenic by Neurogenetics group, VIB, Antwerp, Belgium

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006295.3(VARS1):c.2464G>A (p.Gly822Ser) rs376864621 0.00002
NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp) rs749228986 0.00001
NM_006295.3(VARS1):c.2825G>A (p.Arg942Gln) rs1336685414 0.00001
NM_006295.3(VARS1):c.1199A>C (p.Gln400Pro) rs1562303844
NM_006295.3(VARS1):c.1300C>G (p.Leu434Val) rs1562303235
NM_006295.3(VARS1):c.1325G>A (p.Arg442Gln) rs762729609
NM_006295.3(VARS1):c.219_232dup (p.Leu78fs) rs757026184

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