ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 1A by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00010
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) rs1564685400 0.00001
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000494.4(COL17A1):c.2912del (p.Pro971fs)
NM_000494.4(COL17A1):c.3297C>A (p.Tyr1099Ter)
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)
NM_000494.4(COL17A1):c.3462_3463del (p.Gly1155fs)
NM_000494.4(COL17A1):c.4147_4148del (p.Ser1383fs)
NM_000494.4(COL17A1):c.541_550del (p.Asn181fs)

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