ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp) rs144070672 0.00018
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
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_000094.4(COL7A1):c.2440+3A>C
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
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)
NM_016519.6(AMBN):c.15+1G>A
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)
NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)
NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)
NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)

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