ClinVar Miner

List of variants studied for TCF12-related craniosynostosis

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_207037.2(TCF12):c.*3A>G rs1224019481 0.00001
NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln) rs1057518720 0.00001
NM_207037.2(TCF12):c.*646T>G rs1204777319
NM_207037.2(TCF12):c.1000_1001del (p.Gln334fs)
NM_207037.2(TCF12):c.1035+3G>C rs886037640
NM_207037.2(TCF12):c.1035+4660C>T rs2151950851
NM_207037.2(TCF12):c.1035+5G>A rs878853094
NM_207037.2(TCF12):c.1036-6G>A
NM_207037.2(TCF12):c.1054_1055dup (p.Ser353fs)
NM_207037.2(TCF12):c.1071del (p.Ser358fs)
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) rs1555409014
NM_207037.2(TCF12):c.1223T>A (p.Leu408Ter)
NM_207037.2(TCF12):c.1261-3C>G rs2152019791
NM_207037.2(TCF12):c.1366dup (p.Ile456fs)
NM_207037.2(TCF12):c.1491dup (p.Val498fs) rs886037637
NM_207037.2(TCF12):c.1541C>A (p.Ser514Ter) rs2060619071
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs) rs1555412971
NM_207037.2(TCF12):c.1646del (p.Lys549fs) rs886037638
NM_207037.2(TCF12):c.1746-8T>G
NM_207037.2(TCF12):c.1807C>T (p.Arg603Trp) rs1191340189
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265
NM_207037.2(TCF12):c.1832G>A (p.Arg611His)
NM_207037.2(TCF12):c.1837C>T (p.Arg613Cys) rs1414251456
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter) rs758543580
NM_207037.2(TCF12):c.1879dup (p.Met627fs)
NM_207037.2(TCF12):c.1907_1908del (p.Lys636fs) rs2061224553
NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu) rs886037641
NM_207037.2(TCF12):c.1952T>G (p.Ile651Ser)
NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter) rs886037639
NM_207037.2(TCF12):c.1991del (p.Asn664fs)
NM_207037.2(TCF12):c.2068C>T (p.Pro690Ser) rs2061739586
NM_207037.2(TCF12):c.207del (p.Tyr70fs) rs2141725707
NM_207037.2(TCF12):c.268C>T (p.Arg90Ter) rs747222651
NM_207037.2(TCF12):c.325+2T>C
NM_207037.2(TCF12):c.655del (p.Ser219fs)
NM_207037.2(TCF12):c.722C>G (p.Ser241Ter) rs398122381
NM_207037.2(TCF12):c.743_744insGTCCG (p.Phe249fs)
NM_207037.2(TCF12):c.778_779del (p.Met260fs) rs2059175292
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)
NM_207037.2(TCF12):c.786dup (p.Ser263fs) rs1597483678
NM_207037.2(TCF12):c.791del (p.Ser264fs)
NM_207037.2(TCF12):c.801C>T (p.Gly267=) rs2059176608
NM_207037.2(TCF12):c.812C>A (p.Ser271Ter) rs554037047
NM_207037.2(TCF12):c.826-2A>G rs2151925569
NM_207037.2(TCF12):c.842C>G (p.Ser281Ter) rs886037636

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