ClinVar Miner

List of variants reported as pathogenic for acrocephalosyndactyly

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492 0.00001
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter) rs1222471099 0.00001
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621 0.00001
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606 0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) rs1438138090 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
GRCh37/hg19 7p21.1(chr7:19066802-19662813)x1
GRCh37/hg19 7p21.1(chr7:19152100-19157785)
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1
NC_000006.12:g.(?_57186982)_(57222324_?)del
NC_000007.13:g.(?_19156336)_(19157207_?)del
NC_000007.14:g.(?_19116693)_(19117341_?)del
NC_000008.10:g.(?_37595441)_(38961219_?)del
NC_000008.10:g.(?_38314854)_(38314964_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NC_000019.10:g.(?_42370701)_(42370831_?)del
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe) rs121918490
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) rs387907372
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_000141.5(FGFR2):c.818_820del (p.Asp273del) rs121918503
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) rs886037837
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.940-1G>A rs879253719
NM_000141.5(FGFR2):c.940-2A>C rs1057519041
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.940-3_946delinsACC rs1589828632
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000474.4(TWIST1):c.-18C>T
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.141_145del (p.Gly48fs)
NM_000474.4(TWIST1):c.176del (p.Gly59fs)
NM_000474.4(TWIST1):c.197del (p.Pro66fs) rs1585617611
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
NM_000474.4(TWIST1):c.211del (p.Gln71fs)
NM_000474.4(TWIST1):c.258_261dup (p.Gly88fs) rs2115396985
NM_000474.4(TWIST1):c.277dup (p.Ser93fs) rs1585617402
NM_000474.4(TWIST1):c.290_294del (p.Gly97fs)
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs) rs1585617240
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.310G>T (p.Glu104Ter) rs757253926
NM_000474.4(TWIST1):c.319C>T (p.Gln107Ter)
NM_000474.4(TWIST1):c.321dup (p.Thr108fs) rs1788583845
NM_000474.4(TWIST1):c.325C>T (p.Gln109Ter)
NM_000474.4(TWIST1):c.338_339dup (p.Asn114fs) rs2115396782
NM_000474.4(TWIST1):c.347G>C (p.Arg116Pro)
NM_000474.4(TWIST1):c.349G>T (p.Glu117Ter) rs2115396763
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly) rs1554442016
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) rs1233220987
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) rs1585617108
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro) rs121909189
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.395_415dup (p.Arg132_Leu138dup) rs1554441992
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter) rs1585617015
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) rs1554441989
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) rs1563159980
NM_000474.4(TWIST1):c.400ATC[1] (p.Ile135del) rs2115396671
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
NM_000474.4(TWIST1):c.408del (p.Thr137fs)
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) rs1554441993
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) rs1788580326
NM_000474.4(TWIST1):c.437_448del (p.Ile146_Leu149del) rs2115396610
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) rs1788579980
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.467T>G (p.Ile156Ser) rs2115396578
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe) rs1563159945
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) rs2115397248
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) rs2115396414
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) rs1585617865
NM_000474.4(TWIST1):c.79dup (p.Gln27fs)
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter) rs104894055
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
NM_001271938.2(MEGF8):c.5073del (p.Phe1692fs) rs1164577355
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg) rs2147448693
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) rs1765602287
NM_016277.5(RAB23):c.17del (p.Met6fs) rs1765608519
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
NM_016277.5(RAB23):c.398+1G>A rs2127998616
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter) rs2127998022
NM_016277.5(RAB23):c.426del (p.Arg142fs)
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
NM_016277.5(RAB23):c.467del (p.Leu156fs)
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) rs2127997677
NM_016277.5(RAB23):c.5del (p.Leu2fs) rs1593223920
NM_016277.5(RAB23):c.82del (p.Arg28fs) rs2128004184
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) rs1593223800
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.111del (p.Val38fs)
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) rs121909634
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs) rs2150705198
NM_023110.3(FGFR1):c.1430+1G>A rs1554552774
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_023110.3(FGFR1):c.1512del (p.Lys504fs) rs1817280576
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
NM_023110.3(FGFR1):c.1946del (p.His649fs)
NM_023110.3(FGFR1):c.1948del (p.His650fs)
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.979_983del (p.His327fs) rs2150757205

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