ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta, type 1J by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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.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

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