ClinVar Miner

List of variants reported as benign for Loeys-Dietz syndrome by Invitae

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.565+2214C>G rs17459334 0.06758
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001032283.3(TMPO):c.565+1665A>G rs11838270 0.02179
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01895
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_001032283.3(TMPO):c.565+2051T>A rs12316677 0.01280
NM_001032283.3(TMPO):c.565+1890T>G rs80325832 0.01253
NM_001032283.3(TMPO):c.565+1344G>C rs114939776 0.01252
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) rs4252345 0.01156
NM_001032283.3(TMPO):c.225G>A (p.Pro75=) rs59027673 0.00590
NM_001032283.3(TMPO):c.565+2487C>T rs17028450 0.00576
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) rs11466415 0.00461
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001032283.3(TMPO):c.87C>T (p.Ala29=) rs114074541 0.00153
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_003239.5(TGFB3):c.34C>T (p.Leu12=) rs143612445 0.00096
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_003238.6(TGFB2):c.588C>T (p.Gly196=) rs192335285 0.00038
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile) rs200420073 0.00029
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_001032283.3(TMPO):c.565+1298G>A rs370939324 0.00016
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_001032283.3(TMPO):c.280-9T>C rs756782828 0.00012
NM_003239.5(TGFB3):c.1081-14A>G rs201379167 0.00005
NM_001032283.3(TMPO):c.565+1421A>G rs772426890 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) rs749768136 0.00004
NM_003239.5(TGFB3):c.927-20A>G rs574227787 0.00002
NM_001032283.3(TMPO):c.108G>T (p.Val36=) rs532884813 0.00001
NM_001032283.3(TMPO):c.81G>T (p.Leu27=) rs549257131 0.00001
NM_003238.6(TGFB2):c.501G>A (p.Glu167=) rs550789732 0.00001
NM_003239.5(TGFB3):c.798C>T (p.Arg266=) rs772654040 0.00001
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_003238.6(TGFB2):c.511-10del rs376560786
NM_003238.6(TGFB2):c.755-5dup
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) rs575379914
NM_003239.5(TGFB3):c.927-13dup rs1303198865

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