ClinVar Miner

List of variants in gene KLK4 reported as pathogenic for amelogenesis imperfecta

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_004917.5(KLK4):c.632del (p.Leu211fs) rs556734208 0.00001
NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) rs1266288524 0.00001
NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) rs1185328501
NM_004917.5(KLK4):c.245del (p.Gly82fs) rs786204825

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