List of variants in gene LOC130006032, LTBP3 studied 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
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.1971G>C (p.Ser657=)	rs372794947	0.00014
NM_001130144.3(LTBP3):c.1905C>T (p.Thr635=)	rs750311222	0.00008
NM_001130144.3(LTBP3):c.1925A>G (p.His642Arg)	rs968371027	0.00001
NM_001130144.3(LTBP3):c.1942C>A (p.Arg648Ser)	rs763889449	0.00001
NM_001130144.3(LTBP3):c.1977G>T (p.Val659=)	rs755306051	0.00001
NM_001130144.3(LTBP3):c.1908C>T (p.Gly636=)	rs767494218
NM_001130144.3(LTBP3):c.1924C>G (p.His642Asp)
NM_001130144.3(LTBP3):c.1936G>C (p.Gly646Arg)
NM_001130144.3(LTBP3):c.1937del (p.Gly646fs)	rs1347418307
NM_001130144.3(LTBP3):c.1941C>T (p.Tyr647=)
NM_001130144.3(LTBP3):c.1942C>T (p.Arg648Cys)	rs763889449
NM_001130144.3(LTBP3):c.1950C>A (p.His650Gln)
NM_001130144.3(LTBP3):c.1962G>C (p.Gly654=)
NM_001130144.3(LTBP3):c.1963G>A (p.Gly655Arg)	rs770990142
NM_001130144.3(LTBP3):c.1965dup (p.Arg656fs)
NM_001130144.3(LTBP3):c.1978+10G>A
NM_001130144.3(LTBP3):c.1978+11C>T
NM_001130144.3(LTBP3):c.1978+9C>T

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