ClinVar Miner

List of variants studied for Saethre-Chotzen syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP
NC_000007.13:g.(?_19156316)_(19156964_?)del
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.197del (p.Pro66fs)
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.277dup (p.Ser93fs)
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs)
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.33G>T (p.Ser11=) rs1554442101
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) rs1554442021
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) rs1554442015
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)
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.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) rs1554441992
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter)
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.400_420dup (p.Ile134_Ser140dup)
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) rs1554441993
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992
NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_022970.3(FGFR2):c.*1070T>C rs886046761
NM_022970.3(FGFR2):c.*111G>A rs574474794
NM_022970.3(FGFR2):c.*1126T>C rs370106008
NM_022970.3(FGFR2):c.*1287A>C rs886046760
NM_022970.3(FGFR2):c.*1301C>T rs71640261
NM_022970.3(FGFR2):c.*1319A>G rs3135830
NM_022970.3(FGFR2):c.*1369C>T rs886046759
NM_022970.3(FGFR2):c.*1402T>C rs886046758
NM_022970.3(FGFR2):c.*1489C>T rs886046757
NM_022970.3(FGFR2):c.*1498_*1502del rs566259479
NM_022970.3(FGFR2):c.*184C>T rs4647917
NM_022970.3(FGFR2):c.*197del rs748777325
NM_022970.3(FGFR2):c.*259C>T rs1047057
NM_022970.3(FGFR2):c.*324A>G rs150519853
NM_022970.3(FGFR2):c.*403A>G rs3135826
NM_022970.3(FGFR2):c.*469G>A rs41294351
NM_022970.3(FGFR2):c.*497T>C rs3135827
NM_022970.3(FGFR2):c.*641_*644del rs548465887
NM_022970.3(FGFR2):c.*674G>T rs566155088
NM_022970.3(FGFR2):c.*736dup rs886046762
NM_022970.3(FGFR2):c.*921G>A rs185617859
NM_022970.3(FGFR2):c.-128G>A rs547739869
NM_022970.3(FGFR2):c.-129C>T rs886046765
NM_022970.3(FGFR2):c.-135C>T rs554557891
NM_022970.3(FGFR2):c.-157A>G rs41258305
NM_022970.3(FGFR2):c.-165G>A rs886046766
NM_022970.3(FGFR2):c.-236G>A rs1047111
NM_022970.3(FGFR2):c.-236G>C rs1047111
NM_022970.3(FGFR2):c.-298_-297dup rs41301549
NM_022970.3(FGFR2):c.-318G>C rs41301547
NM_022970.3(FGFR2):c.-358C>T rs41301545
NM_022970.3(FGFR2):c.-371C>T rs527570655
NM_022970.3(FGFR2):c.-458C>A rs41301043
NM_022970.3(FGFR2):c.-46G>A rs201606812
NM_022970.3(FGFR2):c.-535G>C rs886046767
NM_022970.3(FGFR2):c.-622G>A rs886046768
NM_022970.3(FGFR2):c.-74G>A rs4647922
NM_022970.3(FGFR2):c.1087+1268G>A rs199757302
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1087+1311G>A rs121918491
NM_022970.3(FGFR2):c.1088-13A>T rs41295573
NM_022970.3(FGFR2):c.109+10T>G rs3135722
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys) rs121913478
NM_022970.3(FGFR2):c.1153G>A (p.Gly385Arg) rs1554927408
NM_022970.3(FGFR2):c.1182A>T (p.Val394=) rs886046763
NM_022970.3(FGFR2):c.1242G>A (p.Pro414=) rs147674677
NM_022970.3(FGFR2):c.1542C>A (p.Thr514=) rs74160617
NM_022970.3(FGFR2):c.1551G>A (p.Val517=) rs200522893
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.1777C>T (p.Arg593Cys) rs141929882
NM_022970.3(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_022970.3(FGFR2):c.1944C>T (p.Leu648=) rs35337478
NM_022970.3(FGFR2):c.2004C>G (p.Val668=) rs61731218
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.2418C>T (p.Tyr806=) rs558460047
NM_022970.3(FGFR2):c.2419G>A (p.Glu807Lys) rs764959117
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_022970.3(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_022970.3(FGFR2):c.879C>T (p.His293=) rs55745510
NM_022970.3(FGFR2):c.939+11T>C rs145303463
TWIST1, 21-BP DUP

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.