ClinVar Miner

List of variants in gene LAMB3 reported as pathogenic for amelogenesis imperfecta type 1A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) rs80356680 0.00006
NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter) rs747916314 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_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

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