List of variants studied for Loeys-Dietz syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)	rs201745016	0.00007
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	rs113605875	0.00001
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
NM_004612.4(TGFBR1):c.343+1G>C
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val)	rs2118632040
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe)	rs863223807
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr)	rs2118780524
NM_004612.4(TGFBR1):c.98-1G>A

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