ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003238.6(TGFB2):c.*1502T>C rs17500758 0.03234
NM_003238.6(TGFB2):c.*2188T>C rs17047869 0.02183
NM_003238.6(TGFB2):c.*1128G>A rs56271792 0.01172
NM_003238.6(TGFB2):c.-1016C>T rs11466365 0.01071
NM_003238.6(TGFB2):c.*2564A>G rs77808075 0.01063
NM_003238.6(TGFB2):c.*1273T>C rs143593418 0.00586
NM_003238.6(TGFB2):c.-288A>T rs116531760 0.00572
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_003238.6(TGFB2):c.*1233T>A rs555872587 0.00091
NM_003238.6(TGFB2):c.798T>A (p.Thr266=) rs376354795 0.00002
NM_003238.6(TGFB2):c.*21G>T rs778452299

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