ClinVar Miner

List of variants in gene ACP4 reported as pathogenic for amelogenesis imperfecta type 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_033068.3(ACP4):c.226C>T (p.Arg76Cys) rs1057519277
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro) rs767907487
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys) rs779823931
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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