ClinVar Miner

List of variants in gene CPLANE1 studied for not provided

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Gene type:
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Total variants: 111
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HGVS dbSNP
GRCh37/hg19 5p13.2(chr5:37196421-37219882)x1
NM_023073.3(CPLANE1):c.1055C>A (p.Thr352Lys) rs1443893630
NM_023073.3(CPLANE1):c.1121+250T>C
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1281T>A (p.Asp427Glu) rs1416115425
NM_023073.3(CPLANE1):c.1371+5A>G rs794727005
NM_023073.3(CPLANE1):c.1372-2A>G rs886043786
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548
NM_023073.3(CPLANE1):c.1507G>A (p.Ala503Thr) rs1064796585
NM_023073.3(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540
NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=) rs186970259
NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993
NM_023073.3(CPLANE1):c.2138C>T (p.Ser713Leu) rs765005739
NM_023073.3(CPLANE1):c.221C>T (p.Ala74Val) rs139496915
NM_023073.3(CPLANE1):c.2291+169C>T
NM_023073.3(CPLANE1):c.2318A>G (p.Tyr773Cys) rs1057521766
NM_023073.3(CPLANE1):c.2339A>G (p.Gln780Arg) rs1289028361
NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163
NM_023073.3(CPLANE1):c.2501-50A>G
NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154
NM_023073.3(CPLANE1):c.2848T>G (p.Phe950Val) rs794727177
NM_023073.3(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_023073.3(CPLANE1):c.3290-174C>A
NM_023073.3(CPLANE1):c.3295A>G (p.Ile1099Val) rs768197468
NM_023073.3(CPLANE1):c.3341T>A (p.Val1114Glu) rs746467519
NM_023073.3(CPLANE1):c.3380C>A (p.Ser1127Ter) rs375009168
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.3665T>C (p.Met1222Thr) rs768751619
NM_023073.3(CPLANE1):c.3673-1G>C rs886041688
NM_023073.3(CPLANE1):c.3676C>T (p.Arg1226Ter) rs749421099
NM_023073.3(CPLANE1):c.3685G>C (p.Gly1229Arg) rs1057522278
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.3846G>A (p.Met1282Ile) rs1554086273
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4074C>G (p.Ile1358Met)
NM_023073.3(CPLANE1):c.4080+191G>A
NM_023073.3(CPLANE1):c.4080+27C>T rs78164677
NM_023073.3(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118
NM_023073.3(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523
NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.532_534del (p.Lys178del) rs886043021
NM_023073.3(CPLANE1):c.5363_5365del (p.Leu1788del) rs1561522930
NM_023073.3(CPLANE1):c.5397T>G (p.Tyr1799Ter) rs759881074
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796
NM_023073.3(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.57G>A (p.Trp19Ter) rs886041966
NM_023073.3(CPLANE1):c.5821-226T>C
NM_023073.3(CPLANE1):c.5900+1G>T rs1554080188
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.5978+122_5978+123insTAA
NM_023073.3(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169
NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_023073.3(CPLANE1):c.6306A>G (p.Gly2102=)
NM_023073.3(CPLANE1):c.6462+149C>T
NM_023073.3(CPLANE1):c.6462+60G>A
NM_023073.3(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483
NM_023073.3(CPLANE1):c.6583A>G (p.Thr2195Ala) rs374876051
NM_023073.3(CPLANE1):c.6695C>T (p.Ser2232Phe)
NM_023073.3(CPLANE1):c.677+241A>T
NM_023073.3(CPLANE1):c.677+2T>C rs886041870
NM_023073.3(CPLANE1):c.6777_6794del (p.Glu2259_Ser2264del) rs1561476971
NM_023073.3(CPLANE1):c.6860G>A (p.Ser2287Asn)
NM_023073.3(CPLANE1):c.6989A>G (p.Gln2330Arg) rs886041152
NM_023073.3(CPLANE1):c.702G>A (p.Trp234Ter) rs1554114025
NM_023073.3(CPLANE1):c.7054T>C (p.Ser2352Pro) rs774239772
NM_023073.3(CPLANE1):c.7079del (p.Pro2360fs) rs1085307795
NM_023073.3(CPLANE1):c.7159A>G (p.Ile2387Val) rs1351045535
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7589-187A>G
NM_023073.3(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284
NM_023073.3(CPLANE1):c.7813-145_7813-144insA
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7958-332T>C
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.8080G>A (p.Ala2694Thr) rs749132510
NM_023073.3(CPLANE1):c.81+5G>T rs1057523306
NM_023073.3(CPLANE1):c.8164_8166delinsTTT (p.Glu2722Phe) rs1561422940
NM_023073.3(CPLANE1):c.82-179A>G
NM_023073.3(CPLANE1):c.8300-196C>T
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.8471-321G>C
NM_023073.3(CPLANE1):c.8501+151A>C
NM_023073.3(CPLANE1):c.8510_8516delinsAT (p.Val2837fs) rs1064796131
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
NM_023073.3(CPLANE1):c.8630+1G>T rs886041757
NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) rs141507441
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8796A>G (p.Pro2932=)
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.8923del (p.Ser2975fs) rs794727691
NM_023073.3(CPLANE1):c.895G>T (p.Gly299Ter) rs1561704278
NM_023073.3(CPLANE1):c.9019_9023+1del rs750972473
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.9292G>A (p.Gly3098Arg) rs144081297
NM_023073.3(CPLANE1):c.9539_9541TGG[1] (p.Val3181del) rs1561271347
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405

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