ClinVar Miner

List of variants in gene MERTK reported as uncertain significance for Retinitis pigmentosa

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.878G>A (p.Arg293His) rs34072093 0.01044
NM_006343.3(MERTK):c.2028C>T (p.Tyr676=) rs56225811 0.00704
NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys) rs113485015 0.00703
NM_006343.3(MERTK):c.*439A>G rs191525605 0.00540
NM_006343.3(MERTK):c.*193T>C rs79712097 0.00192
NM_006343.3(MERTK):c.960+9C>A rs373198570 0.00116
NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln) rs138908058 0.00086
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_006343.3(MERTK):c.2142G>C (p.Leu714=) rs200363872 0.00047
NM_006343.3(MERTK):c.*310A>G rs886054763 0.00045
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu) rs144751432 0.00033
NM_006343.3(MERTK):c.*111G>A rs367613631 0.00020
NM_006343.3(MERTK):c.*11G>A rs375195445 0.00016
NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile) rs139822416 0.00012
NM_006343.3(MERTK):c.-119C>T rs1224407714 0.00009
NM_006343.3(MERTK):c.207G>C (p.Gln69His) rs200120223 0.00006
NM_006343.3(MERTK):c.710G>A (p.Arg237His) rs199707021 0.00006
NM_006343.3(MERTK):c.1436T>A (p.Phe479Tyr) rs145142422 0.00005
NM_006343.3(MERTK):c.*309C>A rs886054762 0.00003
NM_006343.3(MERTK):c.138C>G (p.Asp46Glu) rs527694612 0.00003
NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser) rs781442827 0.00003
NM_006343.3(MERTK):c.1885C>T (p.Arg629Trp) rs749774293 0.00003
NM_006343.3(MERTK):c.61+3G>C rs746981720 0.00003
NM_006343.3(MERTK):c.1691T>C (p.Leu564Ser) rs200794038 0.00002
NM_006343.3(MERTK):c.21G>T (p.Pro7=) rs752112582 0.00002
NM_006343.3(MERTK):c.2245T>G (p.Tyr749Asp) rs541892026 0.00002
NM_006343.3(MERTK):c.*112G>A rs750580480 0.00001
NM_006343.3(MERTK):c.1620G>A (p.Glu540=) rs1381595159 0.00001
NM_006343.3(MERTK):c.1669C>T (p.Arg557Trp) rs867486301 0.00001
NM_006343.3(MERTK):c.1783dup (p.Glu595fs) rs1337364058 0.00001
NM_006343.3(MERTK):c.2202C>T (p.Asp734=) rs1323896467 0.00001
NM_006343.3(MERTK):c.2273G>A (p.Arg758His) rs370526555 0.00001
NM_006343.3(MERTK):c.2551A>C (p.Arg851=) rs769304424 0.00001
NM_006343.3(MERTK):c.583+8C>T rs762862240 0.00001
NM_006343.3(MERTK):c.*57T>A rs886054760
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_006343.3(MERTK):c.1719A>G (p.Leu573=) rs886054758
NM_006343.3(MERTK):c.1960+8C>T rs112541306
NM_006343.3(MERTK):c.2081A>G (p.His694Arg) rs886054759
NM_006343.3(MERTK):c.2135A>G (p.Glu712Gly) rs1677288107
NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln) rs55924349
NM_006343.3(MERTK):c.2590G>A (p.Val864Ile) rs557004700
NM_006343.3(MERTK):c.2590G>T (p.Val864Phe) rs557004700
NM_006343.3(MERTK):c.27G>A (p.Leu9=) rs1683973924
NM_006343.3(MERTK):c.2957del (p.Leu986fs) rs763144375
NM_006343.3(MERTK):c.709C>T (p.Arg237Cys) rs770812369
NM_006343.3(MERTK):c.756A>C (p.Pro252=) rs3761702
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006343.3(MERTK):c.782G>C (p.Ser261Thr) rs142284609

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