ClinVar Miner

List of variants in gene CPLANE1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter) rs749421099 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val) rs891693382 0.00004
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001384732.1(CPLANE1):c.8792+1G>T rs886041757 0.00003
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.2422_2423del (p.Leu808fs) rs1242532564 0.00001
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter) rs1285358729 0.00001
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter) rs1359437084 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.3805G>C (p.Ala1269Pro) rs775914551 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657 0.00001
NM_001384732.1(CPLANE1):c.709C>T (p.Gln237Ter) rs957588958 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter) rs863225155 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001384732.1(CPLANE1):c.9466C>T (p.Gln3156Ter) rs774297305 0.00001
GRCh37/hg19 5p13.2(chr5:37142412-37148370)x1
GRCh37/hg19 5p13.2(chr5:37196421-37219882)x1
NC_000005.9:g.(?_37148263)_(37148390_?)del
NC_000005.9:g.(?_37187496)_(37187964_?)del
NC_000005.9:g.(?_37201673)_(37231171_?)dup
NM_001384732.1(CPLANE1):c.1041_1044dup (p.Thr349fs) rs2150517916
NM_001384732.1(CPLANE1):c.1199_1200del (p.Arg400fs) rs1432383285
NM_001384732.1(CPLANE1):c.1303_1304del (p.Met435fs)
NM_001384732.1(CPLANE1):c.1327del (p.Thr443fs)
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
NM_001384732.1(CPLANE1):c.1419_1420insTC (p.Leu475fs) rs2150448548
NM_001384732.1(CPLANE1):c.1689_1690dup (p.Arg564fs)
NM_001384732.1(CPLANE1):c.1739G>A (p.Trp580Ter)
NM_001384732.1(CPLANE1):c.1780del (p.Met594fs)
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1880C>G (p.Ser627Ter)
NM_001384732.1(CPLANE1):c.2045C>G (p.Ser682Ter) rs1796506869
NM_001384732.1(CPLANE1):c.2243del (p.Phe748fs) rs755887339
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_001384732.1(CPLANE1):c.2291+2T>C rs1051234664
NM_001384732.1(CPLANE1):c.2334G>A (p.Trp778Ter)
NM_001384732.1(CPLANE1):c.233G>T (p.Gly78Val) rs1554117507
NM_001384732.1(CPLANE1):c.2426T>A (p.Leu809Ter) rs2150399759
NM_001384732.1(CPLANE1):c.2528_2529del (p.Ser842_Tyr843insTer)
NM_001384732.1(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_001384732.1(CPLANE1):c.2616T>A (p.Tyr872Ter) rs2150361736
NM_001384732.1(CPLANE1):c.2743dup (p.Ser915fs) rs1795316019
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3012T>A (p.Tyr1004Ter)
NM_001384732.1(CPLANE1):c.3030_3033del (p.Phe1010fs) rs2150128983
NM_001384732.1(CPLANE1):c.3074_3077dup (p.Asp1027fs)
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
NM_001384732.1(CPLANE1):c.3115C>T (p.Gln1039Ter)
NM_001384732.1(CPLANE1):c.3150-1G>T rs606231258
NM_001384732.1(CPLANE1):c.3204dup (p.Gln1069fs) rs2150117334
NM_001384732.1(CPLANE1):c.3380C>A (p.Ser1127Ter) rs375009168
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs) rs1228082731
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3545del (p.Asn1182fs) rs769153428
NM_001384732.1(CPLANE1):c.3550C>T (p.Arg1184Cys)
NM_001384732.1(CPLANE1):c.3551G>A (p.Arg1184His)
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3604C>T (p.Gln1202Ter) rs750256343
NM_001384732.1(CPLANE1):c.3630_3631del (p.Trp1210_Tyr1211delinsTer)
NM_001384732.1(CPLANE1):c.3640C>T (p.Gln1214Ter)
NM_001384732.1(CPLANE1):c.3829dup (p.Cys1277fs) rs1784470848
NM_001384732.1(CPLANE1):c.3895del (p.Ala1299fs)
NM_001384732.1(CPLANE1):c.3906_3912del (p.Asn1302fs) rs1291258464
NM_001384732.1(CPLANE1):c.3928G>T (p.Glu1310Ter) rs1408467437
NM_001384732.1(CPLANE1):c.4258A>T (p.Lys1420Ter)
NM_001384732.1(CPLANE1):c.4803del (p.Lys1601fs)
NM_001384732.1(CPLANE1):c.4890dup (p.Ser1631fs) rs1554083251
NM_001384732.1(CPLANE1):c.4976del (p.Pro1659fs)
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.5259G>A (p.Trp1753Ter)
NM_001384732.1(CPLANE1):c.5266del (p.Arg1756fs) rs2151146681
NM_001384732.1(CPLANE1):c.5366G>A (p.Trp1789Ter)
NM_001384732.1(CPLANE1):c.5594dup (p.Asn1865fs) rs990257446
NM_001384732.1(CPLANE1):c.5629del (p.Ser1877fs) rs2151099353
NM_001384732.1(CPLANE1):c.57G>A (p.Trp19Ter) rs886041966
NM_001384732.1(CPLANE1):c.5833G>T (p.Glu1945Ter) rs761502897
NM_001384732.1(CPLANE1):c.5872dup (p.Met1958fs)
NM_001384732.1(CPLANE1):c.5885C>A (p.Ser1962Ter)
NM_001384732.1(CPLANE1):c.5893del (p.Gln1965fs)
NM_001384732.1(CPLANE1):c.6094G>T (p.Glu2032Ter)
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs) rs768675259
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs) rs1188561908
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.6519dup (p.Gly2174fs)
NM_001384732.1(CPLANE1):c.651G>A (p.Trp217Ter)
NM_001384732.1(CPLANE1):c.6556del (p.Ser2186fs) rs2150940890
NM_001384732.1(CPLANE1):c.6557C>A (p.Ser2186Ter)
NM_001384732.1(CPLANE1):c.677+2T>C rs886041870
NM_001384732.1(CPLANE1):c.6955C>T (p.Gln2319Ter)
NM_001384732.1(CPLANE1):c.6998_7005del (p.Ser2333fs)
NM_001384732.1(CPLANE1):c.702G>A (p.Trp234Ter) rs1554114025
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7079del (p.Pro2360fs) rs1085307795
NM_001384732.1(CPLANE1):c.7320del (p.Gly2441fs) rs2150897800
NM_001384732.1(CPLANE1):c.7399del (p.Arg2467fs) rs779025515
NM_001384732.1(CPLANE1):c.7402C>T (p.Gln2468Ter) rs2150870227
NM_001384732.1(CPLANE1):c.7466del (p.Asn2489fs) rs2150869096
NM_001384732.1(CPLANE1):c.7662_7666del (p.Ser2554fs)
NM_001384732.1(CPLANE1):c.7738_7739del (p.Leu2580fs)
NM_001384732.1(CPLANE1):c.7747A>T (p.Lys2583Ter)
NM_001384732.1(CPLANE1):c.7990_7991del (p.Pro2664fs) rs1554068790
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001384732.1(CPLANE1):c.8402_8406del (p.Ser2801fs)
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8491dup (p.Asp2831fs) rs2150407470
NM_001384732.1(CPLANE1):c.8568_8569del (p.Phe2857fs) rs753008073
NM_001384732.1(CPLANE1):c.8633-1G>C rs1561376123
NM_001384732.1(CPLANE1):c.8672_8678delinsAT (p.Val2891fs) rs1064796131
NM_001384732.1(CPLANE1):c.8692G>T (p.Gly2898Ter)
NM_001384732.1(CPLANE1):c.88G>T (p.Glu30Ter) rs932952740
NM_001384732.1(CPLANE1):c.8959-2A>G
NM_001384732.1(CPLANE1):c.8992C>T (p.Gln2998Ter) rs1234849009
NM_001384732.1(CPLANE1):c.8996del (p.Lys2999fs) rs1554050342
NM_001384732.1(CPLANE1):c.9012_9015delAGAC (p.Arg3006fs)
NM_001384732.1(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382
NM_001384732.1(CPLANE1):c.9085del (p.Ser3029fs) rs794727691
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
NM_001384732.1(CPLANE1):c.9339dup (p.Ala3114fs) rs1760511597
NM_001384732.1(CPLANE1):c.9376C>T (p.Gln3126Ter) rs759580516
NM_001384732.1(CPLANE1):c.9560del (p.Ser3187fs) rs2149857098

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