ClinVar Miner

List of variants studied for syndromic craniosynostosis by OMIM

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) rs199952377 0.00019
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363 0.00015
NM_001142784.3(IL11RA):c.886C>T (p.Arg296Trp) rs387906784 0.00013
NM_001142784.3(IL11RA):c.475C>T (p.Gln159Ter) rs387906787 0.00006
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_052989.3(IFT122):c.349+5G>A rs376595844 0.00004
NM_020779.4(WDR35):c.25-2A>G rs397515534 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) rs267607192 0.00003
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492 0.00001
NM_001142784.3(IL11RA):c.662C>G (p.Pro221Arg) rs387906785 0.00001
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621 0.00001
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232 0.00001
NM_005816.5(CD96):c.791C>T (p.Thr264Met) rs119477056 0.00001
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) rs530999984 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) rs1438138090 0.00001
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro) rs397515533 0.00001
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) rs267607175 0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) rs397515568 0.00001
46,XY t(3;18)(q13.13;q12.1)
NC_000022.11:g.42615396C>T
NM_000141.5(FGFR2):c.1009G>C (p.Ala337Pro) rs387906676
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) rs121918489
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.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1026C>G (p.Cys342Trp) rs121918496
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>G (p.Ser354Cys) rs121918490
NM_000141.5(FGFR2):c.1084+3A>G rs879253721
NM_000141.5(FGFR2):c.1115C>G (p.Ser372Cys) rs121913477
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) rs121918507
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
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.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.859_921del (p.His287_Pro307del) rs1554930637
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly) rs121918501
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.874A>G (p.Lys292Glu) rs121918500
NM_000141.5(FGFR2):c.940-1G>A rs879253719
NM_000141.5(FGFR2):c.940-3_946delinsACC rs1589828632
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) rs121918493
NM_000141.5:c.1040_1041ins[N[360];1026_1040]
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
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.392T>C (p.Leu131Pro) rs121909189
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer) rs1585616948
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_001102564.3(IFT43):c.1A>G (p.Met1Val) rs387907107
NM_001142784.3(IL11RA):c.734C>G (p.Ser245Cys) rs387906786
NM_001142784.3(IL11RA):c.907ACCTGGAGC[3] (p.Ser308_Pro309insThrTrpSer)
NM_001271938.2(MEGF8):c.595G>C (p.Gly199Arg) rs2147448693
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1466T>A (p.Val489Glu) rs28931606
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys) rs121912975
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg) rs786205876
NM_001395413.1(POR):c.559_571dup (p.Arg191fs) rs786205878
NM_001395413.1(POR):c.722+1G>A rs786205099
NM_002449.5(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) rs104893895
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.101G>A (p.Gly34Asp) rs387907305
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del) rs398122914
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) rs398122889
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) rs879255280
NM_006494.4(ERF):c.1270C>T (p.Gln424Ter) rs587777010
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006494.4(ERF):c.1A>G (p.Met1Val) rs864321681
NM_006494.4(ERF):c.23-2A>G rs864321680
NM_006494.4(ERF):c.256C>T (p.Arg86Cys) rs587777008
NM_006494.4(ERF):c.547C>T (p.Arg183Ter) rs587777006
NM_006494.4(ERF):c.891_892del (p.Gly299fs) rs587777007
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5:c.3411del rs2150857178
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) rs1593223800
NM_019885.4(CYP26B1):c.1088G>T (p.Arg363Leu) rs281875231
NM_019885.4(CYP26B1):c.436T>C (p.Ser146Pro) rs281875232
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) rs267607174
NM_020779.4(WDR35):c.2858del (p.Pro953fs) rs397515334
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys) rs1553313859
NM_021224.6(ZNF462):c.2542del (p.Cys848fs) rs1588067098
NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs) rs1060499550
NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter) rs1060499549
NM_021224.6(ZNF462):c.4165C>T (p.Gln1389Ter) rs1588070867
NM_021224.6(ZNF462):c.5145del (p.Tyr1716fs) rs1588073071
NM_021224.6(ZNF462):c.763C>T (p.Arg255Ter) rs1588062809
NM_021224.6(ZNF462):c.882dup (p.Ser295fs) rs1588063241
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_025132.4(WDR19):c.2645+1G>T rs1237821935
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.956del (p.Asn319fs) rs2109322891
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) rs267607191
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) rs267607193
NM_052989.3(IFT122):c.273-281_273-271del rs1559868433
NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) rs2083230922
NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp) rs2108740086
NM_052989.3(IFT122):c.955del (p.Glu319fs) rs397515567
NM_207037.2(TCF12):c.1035+3G>C rs886037640
NM_207037.2(TCF12):c.1491dup (p.Val498fs) rs886037637
NM_207037.2(TCF12):c.1646del (p.Lys549fs) rs886037638
NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu) rs886037641
NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter) rs886037639
NM_207037.2(TCF12):c.722C>G (p.Ser241Ter) rs398122381
NM_207037.2(TCF12):c.826-2A>G rs2151925569
NM_207037.2(TCF12):c.842C>G (p.Ser281Ter) rs886037636
NR_029422.2(RNU12):n.75A>G
NR_029422.2(RNU12):n.77T>A
NR_029422.2(RNU12):n.77T>G
NR_029422.2(RNU12):n.86G>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.