ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000228.2(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000228.2(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.2(LAMB3):c.3383-1G>A rs1553275070
NM_000228.2(LAMB3):c.3431C>A (p.Ser1144Ter) rs869320671
NM_000228.2(LAMB3):c.3446_3453delGACTGGAG (p.Gly1149Glufs) rs1553275034
NM_000228.3(LAMB3):c.3394dup (p.Glu1132Glyfs) rs786201004
NM_000888.4(ITGB6):c.1846C>T (p.Arg616Ter) rs730880297
NM_000888.4(ITGB6):c.427G>A (p.Ala143Thr) rs140015315
NM_000888.4(ITGB6):c.825T>A (p.His275Gln) rs730882118
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_016519.5(AMBN):c.294+139_531+478del
NM_016519.5(AMBN):c.532-1G>C rs146238585
NM_031889.2(ENAM):c.123+2T>G rs1553887511
NM_031889.2(ENAM):c.1259_1260insAG (p.Pro422Valfs) rs587776588
NM_031889.2(ENAM):c.157A>T (p.Lys53Ter) rs121908109
NM_031889.2(ENAM):c.1842C>G (p.Tyr614Ter) rs1553888384
NM_031889.2(ENAM):c.534+1G>A rs587776587
NM_031889.2(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_033068.2(ACP4):c.226C>T (p.Arg76Cys) rs1057519277
NM_033068.2(ACP4):c.331C>T (p.Arg111Cys) rs202073531
NM_033068.2(ACP4):c.382G>C (p.Ala128Pro) rs767907487
NM_033068.2(ACP4):c.397G>A (p.Glu133Lys) rs779823931
NM_033068.2(ACP4):c.428C>T (p.Thr143Met) rs546603773
NM_033068.2(ACP4):c.713C>T (p.Ser238Leu) rs763573828
NM_033068.2(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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