ClinVar Miner

List of variants reported as benign for Fleck corneal dystrophy

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=) rs1529978 0.99487
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn) rs10932258 0.99262
NM_015040.4(PIKFYVE):c.*209G>C rs10208295 0.93103
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=) rs2118297 0.93088
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser) rs893253 0.92807
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys) rs1529979 0.92765
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=) rs10932259 0.92756
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu) rs893254 0.92740
NM_015040.4(PIKFYVE):c.5435-47A>G rs994696 0.92719
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=) rs994697 0.92712
NM_015040.4(PIKFYVE):c.*128G>T rs10208191 0.92697
NM_015040.4(PIKFYVE):c.5028-8G>A rs2304544 0.92690
NM_015040.4(PIKFYVE):c.1321-42C>T rs893256 0.92654
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=) rs2304545 0.70349
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala) rs999890 0.13441
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=) rs999891 0.13429
NM_015040.4(PIKFYVE):c.*1262T>G rs6725527 0.10055
NM_015040.4(PIKFYVE):c.*2173C>T rs11538998 0.09994
NM_015040.4(PIKFYVE):c.*2281del rs56993638 0.05007
NM_015040.4(PIKFYVE):c.*2185C>G rs59149007 0.05003
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=) rs13020468 0.03491
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val) rs16840913 0.03433
NM_015040.4(PIKFYVE):c.-160A>G rs34366347 0.03165
NM_015040.4(PIKFYVE):c.2191-15A>T rs16840942 0.03144
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=) rs36031854 0.03133
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=) rs35066043 0.03133
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=) rs41305979 0.02061
NM_015040.4(PIKFYVE):c.*2247A>G rs13391849 0.01573
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=) rs35784095 0.01266
NM_015040.4(PIKFYVE):c.*1978T>C rs535013196 0.01071
NM_015040.4(PIKFYVE):c.*1098A>G rs147936107 0.00759
NM_015040.4(PIKFYVE):c.-134C>T rs115543378 0.00541
NM_015040.4(PIKFYVE):c.*1499T>G rs41295956 0.00527
NM_015040.4(PIKFYVE):c.*3324A>G rs114476866 0.00500
NM_015040.4(PIKFYVE):c.*78T>C rs115754381 0.00425
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=) rs35944808 0.00370
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=) rs61752190 0.00305
NM_015040.4(PIKFYVE):c.173-11C>T rs4675744 0.00299
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly) rs61752191 0.00271
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg) rs148994064 0.00234
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=) rs146239645 0.00228
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln) rs146158348 0.00139
NM_015040.4(PIKFYVE):c.*1923A>G rs151104146 0.00138
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=) rs140774753 0.00134
NM_015040.4(PIKFYVE):c.*2693A>G rs564043919 0.00126
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=) rs61752185 0.00125
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=) rs61752187 0.00108
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=) rs138885638 0.00088
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=) rs146556775 0.00080
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=) rs145498570 0.00076
NM_015040.4(PIKFYVE):c.2331+12T>A rs188586992 0.00075
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=) rs149763308 0.00068
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=) rs147976705 0.00054
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp) rs188498825 0.00049
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=) rs61752188 0.00036
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=) rs149005796 0.00036
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala) rs139991374 0.00031
NM_015040.4(PIKFYVE):c.*2143G>C rs184529823 0.00026
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser) rs144573813 0.00021
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His) rs146673873 0.00021
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val) rs144852646 0.00016
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val) rs137922460 0.00016
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=) rs148810695 0.00011
NM_015040.4(PIKFYVE):c.5434+12A>T rs182134444 0.00011
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=) rs199542979 0.00009
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile) rs145916346 0.00007
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln) rs2289170 0.00005
NM_015040.4(PIKFYVE):c.*3100T>G rs539067320 0.00003
NM_015040.4(PIKFYVE):c.1051-10G>T rs769292195 0.00003
NM_015040.4(PIKFYVE):c.3719+14C>A rs765598840 0.00003
NM_015040.4(PIKFYVE):c.*2738A>G rs553290241 0.00002
NM_015040.4(PIKFYVE):c.*1938G>C rs140749141 0.00001
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala) rs566701537 0.00001
NM_015040.4(PIKFYVE):c.4811-9T>C rs148173811 0.00001
NM_015040.4(PIKFYVE):c.4932-13A>C rs186801100 0.00001
NM_015040.4(PIKFYVE):c.*210G>A rs77542967
NM_015040.4(PIKFYVE):c.*2549G>A rs16841092
NM_015040.4(PIKFYVE):c.*3102_*3104dup rs10622340
NM_015040.4(PIKFYVE):c.*3304TGTAT[1] rs71968755
NM_015040.4(PIKFYVE):c.2191-6A>T rs758552809
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser) rs2363468
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=) rs147789704

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