ClinVar Miner

List of variants in gene MKS1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_017777.4(MKS1):c.544G>A (p.Val182Ile) rs200185068 0.00041
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) rs771585740 0.00009
NM_017777.4(MKS1):c.1298C>T (p.Thr433Met) rs755841031 0.00007
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys) rs559966703 0.00002
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) rs587779734 0.00001
NM_017777.4(MKS1):c.1158A>G (p.Glu386=) rs797045705
NM_017777.4(MKS1):c.1204C>T (p.Leu402Phe) rs1555597681
NM_017777.4(MKS1):c.902C>G (p.Thr301Ser) rs1555599203

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