List of variants in gene LAMB3 reported as pathogenic for dental enamel hypoplasia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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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
NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)

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