ClinVar Miner

List of variants reported as uncertain significance for amelogenesis imperfecta type 1A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys) rs199946321 0.00004
NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000228.3(LAMB3):c.-72C>A rs543183724
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser) rs1666739864
NM_000228.3(LAMB3):c.944-14C>G
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)

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