ClinVar Miner

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

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ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_001135599.3(TGFB2):c.594+12TTG[9] rs10482769
NM_003238.5(TGFB2):c.*1310C>T rs1418556
NM_003238.5(TGFB2):c.*1443T>A rs60086269
NM_003238.5(TGFB2):c.*1585C>G rs17047863
NM_003238.5(TGFB2):c.*1624T>A rs3737977
NM_003238.5(TGFB2):c.*2008G>A rs12408711
NM_003238.5(TGFB2):c.*201A>T rs900
NM_003238.5(TGFB2):c.*2360_*2361del rs3054943
NM_003238.5(TGFB2):c.*2431C>G rs1046017
NM_003238.5(TGFB2):c.*2839G>A rs6704255
NM_003238.5(TGFB2):c.*3196C>T rs6683598
NM_003238.5(TGFB2):c.*747A>C rs991967
NM_003238.5(TGFB2):c.*799del rs57430619
NM_003238.5(TGFB2):c.-113_-110dup rs10482719
NM_003238.5(TGFB2):c.-1302A>G rs10482718
NM_003238.5(TGFB2):c.-677T>C rs112369231
NM_003238.5(TGFB2):c.-714A>C rs73110310
NM_003238.5(TGFB2):c.-784= rs1557153
NM_003242.6(TGFBR2):c.*1521G>A rs11466533
NM_003242.6(TGFBR2):c.*1809A>G rs6550008
NM_003242.6(TGFBR2):c.*2065C>T rs11466536
NM_003242.6(TGFBR2):c.*2085T>A rs11466537
NM_003242.6(TGFBR2):c.*2248dup rs34914516
NM_003242.6(TGFBR2):c.*747C>G rs11466531
NM_003242.6(TGFBR2):c.-128C>G rs2306856
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.6(TGFBR2):c.263+7A>G rs1155705
NM_003242.6(TGFBR2):c.455-4T>A rs11466512
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102
NM_004612.4(TGFBR1):c.*2103_*2104insG rs36064078
NM_004612.4(TGFBR1):c.*2800G>A rs334349
NM_004612.4(TGFBR1):c.*3225G>A rs3739798
NM_004612.4(TGFBR1):c.*3286G>C rs420549
NM_004612.4(TGFBR1):c.*4489T>C rs7850895
NM_004612.4(TGFBR1):c.*4578T>G rs1590
NM_004612.4(TGFBR1):c.*69A>G rs868
NM_004612.4(TGFBR1):c.*884A>G rs334348
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_005902.4(SMAD3):c.*1105G>A rs8031440
NM_005902.4(SMAD3):c.*1245G>A rs8031627
NM_005902.4(SMAD3):c.*1423C>T rs2278670
NM_005902.4(SMAD3):c.*2227G>A rs11638476
NM_005902.4(SMAD3):c.*2282C>T rs12595334
NM_005902.4(SMAD3):c.*2793C>T rs3743342
NM_005902.4(SMAD3):c.*3512A>G rs886051429
NM_005902.4(SMAD3):c.*3719C>T rs886051431
NM_005902.4(SMAD3):c.*402C>T rs8025774
NM_005902.4(SMAD3):c.-15G>A rs1061427
NM_005902.4(SMAD3):c.-23C>T rs36221703
NM_005902.4(SMAD3):c.-28C>T rs144374592
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080

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