ClinVar Miner

List of variants in gene ODAPH reported as pathogenic for amelogenesis imperfecta type 2

Included ClinVar conditions (8):
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_178497.3(C4orf26):c.318G>A rs146645381 0.00004
NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter) rs866941536 0.00001
NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter) rs1560562738
NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) rs1560558455
NM_178497.5(ODAPH):c.68-2A>T rs1560562630

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