ClinVar Miner

List of variants in gene MKS1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
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.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_017777.4(MKS1):c.858+6C>T rs368774719 0.00009
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln) rs1286667377 0.00002
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1572del (p.Ile525fs)
NM_017777.4(MKS1):c.763G>A (p.Gly255Arg) rs201237547
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)

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