ClinVar Miner

List of variants in gene VARS1 reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_006295.3(VARS1):c.2464G>A (p.Gly822Ser) rs376864621 0.00002
NM_006295.3(VARS1):c.2840G>A (p.Arg947His) rs150882285 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.3355C>T (p.Arg1119Cys) rs149378938 0.00001
NM_006295.3(VARS1):c.1300C>G (p.Leu434Val) rs1562303235
NM_006295.3(VARS1):c.1577-2A>G rs1562301511
NM_006295.3(VARS1):c.219_232dup (p.Leu78fs) rs757026184
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006295.3(VARS1):c.3192G>A (p.Met1064Ile) rs1562293093

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