ClinVar Miner

List of variants reported as pathogenic for Saethre-Chotzen syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
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_000007.13:g.(?_19156336)_(19157207_?)del
NC_000007.14:g.(?_19116693)_(19117341_?)del
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
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.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
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

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