ClinVar Miner

List of variants studied for cleft lip with or without cleft palate

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val) rs121912766
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767
NM_001202.6(BMP4):c.361C>T (p.His121Tyr) rs754308298
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) rs387906597
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768
NM_002448.3(MSX1):c.251A>T (p.Glu84Val) rs28928890
NM_002448.3(MSX1):c.365G>A (p.Gly122Glu) rs28933081
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) rs104893854
NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) rs150284621
NM_006147.4(IRF6):c.1173G>T (p.Leu391Phe) rs141653312
NM_006147.4(IRF6):c.1175T>G (p.Val392Gly) rs1553247688
NM_006147.4(IRF6):c.273A>T (p.Arg91Ser) rs1553248262
NM_006147.4(IRF6):c.362G>T (p.Gly121Val) rs1553248247
NM_006147.4(IRF6):c.443A>G (p.Asp148Gly) rs1553248182
NM_006147.4(IRF6):c.457T>G (p.Ser153Ala) rs1553248180
NM_006147.4(IRF6):c.490C>G (p.Pro164Ala) rs1033149441
NM_006147.4(IRF6):c.514C>T (p.Pro172Ser) rs1553247899
NM_006147.4(IRF6):c.595G>A (p.Glu199Lys) rs1553247888
NM_006147.4(IRF6):c.635G>A (p.Ser212Asn) rs1553247880
NM_138281.3(DLX4):c.546del (p.Gln183fs) rs869025279

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.