ClinVar Miner

List of variants in gene MKS1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.915+194A>G rs3213698 0.53827
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_017777.4(MKS1):c.190+280G>T rs62083740 0.24583
NM_017777.4(MKS1):c.1024+219C>T rs57926249 0.15204
NM_017777.4(MKS1):c.81-146G>C rs12051662 0.11216
NM_017777.4(MKS1):c.859-156G>C rs3785494 0.09328
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_017777.4(MKS1):c.80+144C>A rs73329640 0.06559
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_017777.4(MKS1):c.*351del rs35298266 0.04053
NM_017777.4(MKS1):c.81-40T>G rs16942833 0.01980
NM_017777.4(MKS1):c.858+90G>A rs115496661 0.01845
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017777.4(MKS1):c.915+19_915+21del rs3217067

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