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
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HGVS dbSNP
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
SUMO1, DEL

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