ClinVar Miner

List of variants in gene ACP4 studied for amelogenesis imperfecta

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys) rs1057519277 0.00004
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773 0.00003
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro) rs767907487 0.00002
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys) rs779823931 0.00001
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828 0.00001
NM_033068.3(ACP4):c.262C>A (p.Arg88Ser) rs1190557090
NM_033068.3(ACP4):c.350A>G (p.Gln117Arg) rs2123287930
NM_033068.3(ACP4):c.419C>T (p.Pro140Leu) rs1371134137
NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)
NM_033068.3(ACP4):c.645+1G>A
NM_033068.3(ACP4):c.736G>A (p.Val246Met)
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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