List of variants reported as benign for Loeys-Dietz syndrome by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.*2227G>A	rs11638476	0.31592
NM_004612.4(TGFBR1):c.*4578T>G	rs1590	0.28501
NM_004612.4(TGFBR1):c.*884A>G	rs334348	0.28211
NM_004612.4(TGFBR1):c.*2800G>A	rs334349	0.27616
NM_004612.4(TGFBR1):c.2103_2104insG	rs36064078	0.25780
NM_005902.4(SMAD3):c.*2793C>T	rs3743342	0.19499
NM_005902.4(SMAD3):c.*1423C>T	rs2278670	0.19250
NM_005902.4(SMAD3):c.*1105G>A	rs8031440	0.19244
NM_005902.4(SMAD3):c.*1245G>A	rs8031627	0.19233
NM_005902.4(SMAD3):c.*402C>T	rs8025774	0.19194
NM_004612.4(TGFBR1):c.*69A>G	rs868	0.17222
NM_004612.4(TGFBR1):c.*3286G>C	rs420549	0.16407
NM_003242.6(TGFBR2):c.-128C>G	rs2306856	0.10667
NM_004612.4(TGFBR1):c.*4489T>C	rs7850895	0.07302
NM_003242.6(TGFBR2):c.*1809A>G	rs6550008	0.07275
NM_003242.6(TGFBR2):c.*1521G>A	rs11466533	0.04903
NM_003242.6(TGFBR2):c.*2085T>A	rs11466537	0.04867
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=)	rs2228048	0.03013
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=)	rs2228047	0.02974
NM_004612.4(TGFBR1):c.*3225G>A	rs3739798	0.02363
NM_005902.4(SMAD3):c.-28C>T	rs144374592	0.01666
NM_005902.4(SMAD3):c.-23C>T	rs36221703	0.00185
NM_003238.6(TGFB2):c.2360_2361del	rs3054943
NM_003238.6(TGFB2):c.*799del	rs57430619
NM_003238.6(TGFB2):c.-113_-110dup	rs10482719
NM_003238.6(TGFB2):c.510+12TTG[9]	rs10482769
NM_003242.6(TGFBR2):c.*2065C>T	rs11466536
NM_003242.6(TGFBR2):c.*2248dup	rs34914516
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)	rs11466445
NM_005902.4(SMAD3):c.*3512A>G	rs886051429
NM_005902.4(SMAD3):c.*3719C>T	rs886051431

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