ClinVar Miner

List of variants in gene combination CDCA7L, DNAH11

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Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_018719.5(CDCA7L):c.*980T>C rs7971 0.27747
NM_018719.5(CDCA7L):c.*501T>C rs12700325 0.20592
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg) rs77448980 0.06056
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val) rs72658840 0.02832
NM_018719.5(CDCA7L):c.*1052G>A rs72658841 0.01754
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys) rs143362381 0.00403
NM_018719.5(CDCA7L):c.*963G>C rs79947346 0.00244
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys) rs183031009 0.00120
NM_018719.5(CDCA7L):c.*1006A>G rs573090758 0.00092
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=) rs147454485 0.00080
NM_018719.5(CDCA7L):c.*1333C>T rs114694338 0.00036
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=) rs199706799 0.00028
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys) rs200466467 0.00027
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00020
NM_018719.5(CDCA7L):c.*805G>A rs192515848 0.00018
NM_018719.5(CDCA7L):c.*912A>G rs547875413 0.00017
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His) rs138945257 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001277115.2(DNAH11):c.13482C>T (p.Phe4494=) rs370038827 0.00010
NM_001277115.2(DNAH11):c.13407_13415dup (p.Gln4470_Thr4472dup) rs748080467 0.00006
NM_001277115.2(DNAH11):c.13494C>T (p.Ser4498=) rs368269718 0.00006
NM_018719.5(CDCA7L):c.*887G>A rs886062191 0.00006
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His) rs775606157 0.00004
NM_001277115.2(DNAH11):c.13429G>A (p.Glu4477Lys) rs551275210 0.00004
NM_018719.5(CDCA7L):c.*1246G>A rs72658835 0.00004
NM_018719.5(CDCA7L):c.*804C>T rs886062192 0.00004
NM_001277115.2(DNAH11):c.13351_13353del (p.Lys4451del) rs552487543 0.00003
NM_018719.5(CDCA7L):c.*942C>T rs192395057 0.00003
NM_001277115.2(DNAH11):c.13306G>A (p.Ala4436Thr) rs370565524 0.00002
NM_001277115.2(DNAH11):c.13420C>A (p.Gln4474Lys) rs1467862243 0.00002
NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys) rs191791959 0.00002
NM_001277115.2(DNAH11):c.13445G>C (p.Arg4482Thr) rs191791959 0.00001
NM_001277115.2(DNAH11):c.13469A>T (p.Tyr4490Phe) rs1320072390 0.00001
GRCh37/hg19 7p15.3(chr7:21713059-22067069)x3
NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)
NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)
NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly)
NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile)
NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)
NM_001277115.2(DNAH11):c.13320_13350dup (p.Lys4451delinsProSerArgAsnHisCysTer)
NM_001277115.2(DNAH11):c.13320_13416dup (p.Lys4473delinsProSerArgAsnHisCysTer) rs1784790883
NM_001277115.2(DNAH11):c.13321C>G (p.Gln4441Glu)
NM_001277115.2(DNAH11):c.13321C>T (p.Gln4441Ter) rs1261703349
NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)
NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)
NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly)
NM_001277115.2(DNAH11):c.13328G>A (p.Gly4443Glu) rs1375156859
NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)
NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser)
NM_001277115.2(DNAH11):c.13342G>A (p.Ala4448Thr)
NM_001277115.2(DNAH11):c.13345C>T (p.Arg4449Cys) rs751222708
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) rs1257886811
NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)
NM_001277115.2(DNAH11):c.13364_13415dup (p.Lys4473fs) rs2128053357
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=) rs201444942
NM_001277115.2(DNAH11):c.13380_13383dup (p.Ala4462fs)
NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)
NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=) rs759644499
NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)
NM_001277115.2(DNAH11):c.13396C>T (p.Pro4466Ser) rs1784797805
NM_001277115.2(DNAH11):c.13396_13426dup (p.Tyr4476fs)
NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)
NM_001277115.2(DNAH11):c.13406_13409del (p.Arg4469fs)
NM_001277115.2(DNAH11):c.13409_13424del (p.Gln4470fs)
NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)
NM_001277115.2(DNAH11):c.13411_13423del (p.Glu4471fs)
NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)
NM_001277115.2(DNAH11):c.13416_13428del (p.Lys4473fs)
NM_001277115.2(DNAH11):c.13416_13449dup (p.Lys4484delinsGlnThrAspLeuArgValProCysValTer)
NM_001277115.2(DNAH11):c.13416del (p.Lys4473fs)
NM_001277115.2(DNAH11):c.13418_13421dup (p.Tyr4476fs) rs1784799612
NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu)
NM_001277115.2(DNAH11):c.13420C>T (p.Gln4474Ter)
NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del) rs771508476
NM_001277115.2(DNAH11):c.13424_13456del (p.Thr4475_Leu4485del) rs1554294443
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
NM_001277115.2(DNAH11):c.13429G>T (p.Glu4477Ter) rs551275210
NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr)
NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)
NM_001277115.2(DNAH11):c.13439_13449dup (p.Lys4484fs)
NM_001277115.2(DNAH11):c.13444A>G (p.Arg4482Gly) rs1784802858
NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)
NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)
NM_001277115.2(DNAH11):c.13451_13452dup (p.Leu4485fs) rs1450623027
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys)
NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)
NM_001277115.2(DNAH11):c.13464C>A (p.Pro4488=) rs1489261617
NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)
NM_001277115.2(DNAH11):c.13472_*75dup (p.Ile4491_Ter4517=) rs1784806477
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)
NM_001277115.2(DNAH11):c.13473C>G (p.Ile4491Met) rs1784806581
NM_001277115.2(DNAH11):c.13473_*75dup (p.Tyr4490_Ter4517=) rs878854439
NM_001277115.2(DNAH11):c.13475_13504dup (p.Lys4501_Thr4502insArgThrPheArgLeuLysSerGluGluLys)
NM_001277115.2(DNAH11):c.13476dup (p.Thr4493fs)
NM_001277115.2(DNAH11):c.13480_13489dup (p.Lys4497fs)
NM_001277115.2(DNAH11):c.13480_13492dup (p.Ser4498fs) rs2128053495
NM_001277115.2(DNAH11):c.13482C>G (p.Phe4494Leu) rs370038827
NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)
NM_001277115.2(DNAH11):c.13494_13500del (p.Ser4498fs) rs1212535211
NM_001277115.2(DNAH11):c.13499A>G (p.Glu4500Gly)
NM_001277115.2(DNAH11):c.13500_13504del (p.Glu4500fs) rs72658839
NM_001277115.2(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer) rs1554294459
NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)
NM_001277115.2(DNAH11):c.13512_13525del (p.Trp4505fs) rs2128053554
NM_001277115.2(DNAH11):c.13515_13526dup (p.Leu4507_Val4510dup) rs1254126467
NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)
NM_001277115.2(DNAH11):c.13523_13524insCTGGAGTGGCTCTGCTTCTAG (p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer)
NM_001277115.2(DNAH11):c.13523_13543dup (p.Ala4508_Leu4514dup) rs1784814248
NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)
NM_001277115.2(DNAH11):c.13527_13547dup (p.Val4510_Ala4516dup) rs1784815114
NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)
NM_001277115.2(DNAH11):c.13531G>A (p.Ala4511Thr) rs1562614917
NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del) rs1554294478
NM_001277115.2(DNAH11):c.13536_13548dup (p.Ter4517AlaextTer?) rs764221599
NM_001277115.2(DNAH11):c.13537C>A (p.Leu4513Ile)
NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)
NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
NM_018719.5(CDCA7L):c.*1320G>A
NM_018719.5(CDCA7L):c.*1321G>A
NM_018719.5(CDCA7L):c.*1322C>A
NM_018719.5(CDCA7L):c.*1327dup
NM_018719.5(CDCA7L):c.*1328C>G
NM_018719.5(CDCA7L):c.*1328CA[1]
NM_018719.5(CDCA7L):c.*1330C>T
NM_018719.5(CDCA7L):c.*1333_*1334del
NM_018719.5(CDCA7L):c.*1334G>A rs141951506
NM_018719.5(CDCA7L):c.*1334G>C
NM_018719.5(CDCA7L):c.*1334G>T
NM_018719.5(CDCA7L):c.*1335G>A
NM_018719.5(CDCA7L):c.*1335G>T
NM_018719.5(CDCA7L):c.*1375AAGT[1] rs10555456
NM_018719.5(CDCA7L):c.*551CACTGGA[1] rs113860457
NM_018719.5(CDCA7L):c.*766_*769dup rs745609865
NM_018719.5(CDCA7L):c.*788T>C rs1289391313
NM_018719.5(CDCA7L):c.*875G>A rs72658842
NM_018719.5(CDCA7L):c.*879G>C rs62445901
NM_018719.5(CDCA7L):c.*918_*919dup rs886062190
NM_018719.5(CDCA7L):c.*989G>A rs886062189

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