List of variants in gene LTBP3 studied for acromelic dysplasia

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001130144.3(LTBP3):c.2107+13C>T	rs201699516	0.00263
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=)	rs117063418	0.00093
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu)	rs28403592	0.00056
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=)	rs538479771	0.00007
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys)	rs913431428
NM_001130144.3(LTBP3):c.1846+5G>A	rs1188540819
NM_001130144.3(LTBP3):c.2017G>T (p.Gly673Cys)	rs2135141843
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys)	rs1554974135
NM_001130144.3(LTBP3):c.2417C>T (p.Ser806Phe)
NM_001130144.3(LTBP3):c.2893+1G>T	rs2135125210
NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys)	rs1554971742
NM_001130144.3(LTBP3):c.76CTG[6] (p.Leu32_Leu35del)	rs71036212
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)	rs71036212

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