ClinVar Miner

List of variants in gene CPLANE1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 107
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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.4080+27C>T rs78164677 0.15457
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.570+32G>A rs10072236 0.05734
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.5571-40C>G rs10472284 0.01515
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.8286C>T (p.Asp2762=) rs114126795 0.00589
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.1173T>G (p.Ala391=) rs61733482 0.00299
NM_001384732.1(CPLANE1):c.7234-7C>G rs141575785 0.00285
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.5738-6C>T rs148634159 0.00186
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
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.4517A>G (p.His1506Arg) rs141911199 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.8462-1G>C rs151279194 0.00060
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.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001384732.1(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938 0.00043
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00042
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.6744A>G (p.Gln2248=) rs142772503 0.00026
NM_001384732.1(CPLANE1):c.3447A>G (p.Pro1149=) rs141425550 0.00024
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
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.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001384732.1(CPLANE1):c.8292G>A (p.Gln2764=) rs766837329 0.00009
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=) rs769298457 0.00004
NM_001384732.1(CPLANE1):c.8120-6A>G rs373606578 0.00004
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser) rs377107065 0.00004
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.2427A>G (p.Leu809=) rs886038681 0.00003
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) rs139464953 0.00003
NM_001384732.1(CPLANE1):c.*14T>C rs758449287 0.00002
NM_001384732.1(CPLANE1):c.1467C>A (p.Val489=) rs1294855346 0.00002
NM_001384732.1(CPLANE1):c.82-16A>G rs1169604326 0.00002
NM_001384732.1(CPLANE1):c.1602G>A (p.Val534=) rs751572533 0.00001
NM_001384732.1(CPLANE1):c.1902T>G (p.Leu634=) rs1169140135 0.00001
NM_001384732.1(CPLANE1):c.2182C>G (p.Pro728Ala) rs1467926733 0.00001
NM_001384732.1(CPLANE1):c.4739T>C (p.Phe1580Ser) rs1027538017 0.00001
NM_001384732.1(CPLANE1):c.4997A>T (p.Asn1666Ile) rs748543409 0.00001
NM_001384732.1(CPLANE1):c.5421+14T>C rs753624914 0.00001
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=) rs145750519 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.8601C>G (p.Ser2867=) rs754005437 0.00001
NM_001384732.1(CPLANE1):c.9310+6A>T rs1347208910 0.00001
NC_000005.9:g.(37213835_37221425)_(37249531_?)dup
NC_000005.9:g.(37231152_37238958)_(37249531_?)dup
NM_001384732.1(CPLANE1):c.147G>A (p.Lys49=) rs1554117690
NM_001384732.1(CPLANE1):c.1839A>G (p.Lys613=) rs533310477
NM_001384732.1(CPLANE1):c.2613C>G (p.Arg871=) rs1057521941
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.3358A>G (p.Met1120Val)
NM_001384732.1(CPLANE1):c.3626A>C (p.Gln1209Pro) rs762591555
NM_001384732.1(CPLANE1):c.3908T>C (p.Val1303Ala)
NM_001384732.1(CPLANE1):c.4168_4177delinsGTTG (p.Leu1390_Cys1393delinsValGly) rs2151198005
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.4481+14C>A rs903055165
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_001384732.1(CPLANE1):c.5421+5_5421+11delinsTGATAAATACAATTGATA
NM_001384732.1(CPLANE1):c.5819_5820+1del rs750448104
NM_001384732.1(CPLANE1):c.6654A>G (p.Thr2218=) rs1580369618
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001384732.1(CPLANE1):c.938+19_938+22del rs748583943
NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=) rs377707922
NM_001384732.1(CPLANE1):c.9610G>T (p.Glu3204Ter)
Single allele

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