ClinVar Miner

List of variants in gene MERTK studied for Retinitis pigmentosa

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.1552A>G (p.Ile518Val) rs2230515 0.62489
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys) rs7604639 0.62439
NM_006343.3(MERTK):c.757+13T>C rs3761701 0.58627
NM_006343.3(MERTK):c.1881A>G (p.Ser627=) rs1131244 0.57808
NM_006343.3(MERTK):c.1494C>T (p.Asn498=) rs3811634 0.22888
NM_006343.3(MERTK):c.583+10C>T rs11683694 0.22086
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171 0.20460
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_006343.3(MERTK):c.2916G>A (p.Ser972=) rs10205793 0.06012
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635 0.04692
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) rs35858762 0.02007
NM_006343.3(MERTK):c.-34G>A rs141412373 0.01554
NM_006343.3(MERTK):c.878G>A (p.Arg293His) rs34072093 0.01044
NM_006343.3(MERTK):c.102A>G (p.Leu34=) rs143215350 0.00763
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.1353A>G (p.Gln451=) rs35981104 0.00693
NM_006343.3(MERTK):c.*439A>G rs191525605 0.00540
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
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.1296+1G>A rs774577413 0.00006
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.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
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.2302G>A (p.Ala768Thr) rs878853353 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.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.*112G>A rs750580480 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 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.1951C>T (p.Arg651Ter) rs119489105 0.00001
NM_006343.3(MERTK):c.2202C>T (p.Asp734=) rs1323896467 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 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_006343.2(MERTK):c.62_482dup
NM_006343.3(MERTK):c.*57T>A rs886054760
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_006343.3(MERTK):c.1689_1690+5delinsATATTA rs1676864299
NM_006343.3(MERTK):c.1719A>G (p.Leu573=) rs886054758
NM_006343.3(MERTK):c.1868T>A (p.Leu623Ter) rs780007963
NM_006343.3(MERTK):c.1960+8C>T rs112541306
NM_006343.3(MERTK):c.2080-11C>A rs3811640
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.2179C>G (p.Arg727Gly) rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln) rs55924349
NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr) rs1677512620
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.756A>G (p.Pro252=) rs3761702
NM_006343.3(MERTK):c.757+1G>A rs1573592124
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006343.3(MERTK):c.782G>C (p.Ser261Thr) rs142284609
NM_006343.3(MERTK):c.844+2dup rs1553452169
NM_006343.3(MERTK):c.960+1G>A rs1573607809

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