ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*4300C>T rs41283642 0.02037
NM_004612.4(TGFBR1):c.*4499G>A rs79641064 0.01970
NM_004612.4(TGFBR1):c.*2703G>A rs76392135 0.01278
NM_004612.4(TGFBR1):c.*1428G>C rs11568811 0.00845
NM_004612.4(TGFBR1):c.*2645A>C rs17724567 0.00660
NM_004612.4(TGFBR1):c.*360A>G rs145692006 0.00493
NM_004612.4(TGFBR1):c.*3261T>C rs117440593 0.00406
NM_004612.4(TGFBR1):c.*3262C>T rs78385793 0.00377
NM_004612.4(TGFBR1):c.*3192T>C rs148797981 0.00356
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.*1515G>A rs11568812 0.00279
NM_004612.4(TGFBR1):c.*4202A>G rs200206515 0.00278
NM_004612.4(TGFBR1):c.*566T>C rs11568808 0.00275
NM_004612.4(TGFBR1):c.*4565T>C rs138721378 0.00273
NM_004612.4(TGFBR1):c.*4493G>A rs41274644 0.00250
NM_004612.4(TGFBR1):c.*2100T>G rs532530728 0.00223
NM_004612.4(TGFBR1):c.*1183G>A rs184564501 0.00209
NM_004612.4(TGFBR1):c.*4809A>T rs185400896 0.00156
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.*1804A>G rs200656974 0.00068
NM_004612.4(TGFBR1):c.*2005T>G rs144216869 0.00040
NM_004612.4(TGFBR1):c.*4728G>A rs187415138 0.00035
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.*1659T>C rs200082162 0.00017
NM_004612.4(TGFBR1):c.*3798G>A rs141277814 0.00017
NM_004612.4(TGFBR1):c.*2179del rs373576679 0.00016
NM_004612.4(TGFBR1):c.*3704A>G rs563433922 0.00009
NM_004612.4(TGFBR1):c.*3830T>C rs186157987 0.00009
NM_004612.4(TGFBR1):c.*1710G>A rs200197062 0.00005
NM_004612.4(TGFBR1):c.*789G>A rs200428927 0.00001
NM_004612.4(TGFBR1):c.*2086T>G rs148063684
NM_004612.4(TGFBR1):c.*3430del rs78078491
NM_004612.4(TGFBR1):c.575-9dup rs863223798

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