List of variants in gene LTBP3 reported as benign for Brachyolmia-amelogenesis imperfecta syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.2107+8G>A	rs74202491	0.05179
NM_001130144.3(LTBP3):c.1313C>T (p.Ala438Val)	rs11545200	0.05087
NM_001130144.3(LTBP3):c.804C>T (p.Pro268=)	rs201590889	0.01247
NM_001130144.3(LTBP3):c.3573C>T (p.Ser1191=)	rs145046881	0.00786
NM_001130144.3(LTBP3):c.1979-11C>G	rs182705867	0.00693
NM_001130144.3(LTBP3):c.2107+13C>T	rs201699516	0.00263
NM_001130144.3(LTBP3):c.3548-9T>C	rs149115544	0.00193
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=)	rs117063418	0.00093
NM_001130144.3(LTBP3):c.1186+18G>T	rs369938562	0.00093
NM_001130144.3(LTBP3):c.708C>A (p.Pro236=)	rs373043487	0.00080
NM_001130144.3(LTBP3):c.1064-10C>T	rs202221935	0.00079
NM_001130144.3(LTBP3):c.3435C>T (p.Asp1145=)	rs534239532	0.00037
NM_001130144.3(LTBP3):c.2458G>A (p.Asp820Asn)	rs140268486	0.00029
NM_001130144.3(LTBP3):c.331+10G>A	rs199896239	0.00027
NM_001130144.3(LTBP3):c.2726-13G>A	rs59666890	0.00024
NM_001130144.3(LTBP3):c.1137T>C (p.Cys379=)	rs201941540	0.00012
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=)	rs538479771	0.00007
NM_001130144.3(LTBP3):c.3629-20T>C	rs542733677	0.00007
NM_001130144.3(LTBP3):c.885C>T (p.Pro295=)	rs575590294	0.00005
NM_001130144.3(LTBP3):c.1556G>A (p.Ser519Asn)	rs570380350	0.00004
NM_001130144.3(LTBP3):c.1332A>G (p.Pro444=)	rs530601538	0.00001
NM_001130144.3(LTBP3):c.864+18C>T	rs374205429	0.00001
NM_001130144.3(LTBP3):c.1187-15del	rs754347924
NM_001130144.3(LTBP3):c.1531+15dup	rs539958151
NM_001130144.3(LTBP3):c.1532-3del	rs2135152686
NM_001130144.3(LTBP3):c.1846+7G>T	rs371976916
NM_001130144.3(LTBP3):c.331+14del
NM_001130144.3(LTBP3):c.3761-15C>T	rs376049741
NM_001130144.3(LTBP3):c.662-16C>T
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup)	rs71036212
NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup)	rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)	rs71036212

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