ClinVar Miner

List of variants in gene CPLANE1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001384732.1(CPLANE1):c.5900+7G>T rs78315844 0.01816
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=) rs74478954 0.01626
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001384732.1(CPLANE1):c.8779A>G (p.Met2927Val) rs143626904 0.00200
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=) rs186970259 0.00113
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly) rs144427399 0.00106
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_001384732.1(CPLANE1):c.7534-5T>C rs537063282 0.00075
NM_001384732.1(CPLANE1):c.*18G>T rs200332492 0.00053
NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp) rs139528477 0.00053
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00042
NM_001384732.1(CPLANE1):c.1116G>A (p.Thr372=) rs551066377 0.00041
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550 0.00024
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=) rs1056117590 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.336C>T (p.Val112=) rs571875820 0.00012
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844 0.00011
NM_001384732.1(CPLANE1):c.6695C>T (p.Ser2232Phe) rs751344423 0.00009
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001384732.1(CPLANE1):c.7414G>A (p.Ala2472Thr) rs866330679 0.00005
NM_001384732.1(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997 0.00004
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val) rs891693382 0.00004
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7691-6T>C rs768225629 0.00004
NM_001384732.1(CPLANE1):c.2427A>G (p.Leu809=) rs886038681 0.00003
NM_001384732.1(CPLANE1):c.4651A>G (p.Ile1551Val) rs544656011 0.00003
NM_001384732.1(CPLANE1):c.6172-3A>C rs780811930 0.00003
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=) rs370303703 0.00003
NM_001384732.1(CPLANE1):c.*14T>C rs758449287 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002
NM_001384732.1(CPLANE1):c.5421+14T>C rs753624914 0.00001
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His) rs863225167 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.861A>T (p.Thr287=) rs555972529 0.00001
NM_001384732.1(CPLANE1):c.1372-84G>A
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2078A>G (p.Lys693Arg)
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.4572AGA[1] (p.Glu1525del)
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.539C>A (p.Ala180Asp)
NM_001384732.1(CPLANE1):c.5551T>C (p.Ser1851Pro)
NM_001384732.1(CPLANE1):c.6867T>A (p.Tyr2289Ter)
NM_001384732.1(CPLANE1):c.6996T>G (p.Ser2332=)
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
NM_001384732.1(CPLANE1):c.7290A>G (p.Gln2430=)
NM_001384732.1(CPLANE1):c.7722G>A (p.Leu2574=)
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=) rs377707922

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