ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys) rs202073531 0.00011
NM_000494.4(COL17A1):c.3277+1G>A rs199527325 0.00010
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr) rs140015315 0.00010
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_033068.3(ACP4):c.226C>T (p.Arg76Cys) rs1057519277 0.00004
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 0.00003
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773 0.00003
NM_000228.3(LAMB3):c.1132+5G>A rs770302956 0.00002
NM_000228.3(LAMB3):c.463dup (p.Ser155fs) rs776537364 0.00002
NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter) rs730880297 0.00002
NM_033068.3(ACP4):c.382G>C (p.Ala128Pro) rs767907487 0.00002
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter) rs1564685400 0.00001
NM_033068.3(ACP4):c.397G>A (p.Glu133Lys) rs779823931 0.00001
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828 0.00001
NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) rs774174881
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000228.3(LAMB3):c.31dup (p.Leu11fs) rs777672897
NM_000228.3(LAMB3):c.3228+1G>A rs778026407
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) rs786201004
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) rs869320671
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) rs1553275034
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)
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) rs730880298
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) rs561588576
NM_000888.5(ITGB6):c.825T>A (p.His275Gln) rs730882118
NM_016519.6(AMBN):c.294+140_531+479del
NM_016519.6(AMBN):c.532-1G>C rs146238585
NM_016519.6(AMBN):c.539dup (p.Val181fs)
NM_031889.3(ENAM):c.123+2T>G rs1553887511
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter) rs121908109
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter) rs1553888384
NM_031889.3(ENAM):c.534+1G>A rs587776587
NM_031889.3(ENAM):c.588+1del rs752102959
NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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