ClinVar Miner

List of variants reported as likely benign for Loeys-Dietz syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.*1833A>C rs1803446 0.02445
NM_003242.6(TGFBR2):c.*330C>A rs304840 0.01221
NM_003242.6(TGFBR2):c.*1880G>A rs11466534 0.01174
NM_003242.6(TGFBR2):c.*835C>A rs17026332 0.00994
NM_003242.6(TGFBR2):c.*1354C>T rs11466532 0.00943
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00832
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_003242.6(TGFBR2):c.*858C>T rs142745018 0.00443
NM_003242.6(TGFBR2):c.*1507A>G rs139938413 0.00439
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_003242.6(TGFBR2):c.*599C>A rs79755385 0.00431
NM_003242.6(TGFBR2):c.*1815C>T rs146296952 0.00421
NM_003242.6(TGFBR2):c.*149A>T rs143024112 0.00415
NM_003242.6(TGFBR2):c.*105G>A rs149112005 0.00377
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_003242.6(TGFBR2):c.*2483T>G rs79535432 0.00328
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.*1886G>T rs11466535 0.00188
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000138.5(FBN1):c.-176A>T rs560004254 0.00145
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.*2066G>A rs566913021 0.00116
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00106
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_003242.6(TGFBR2):c.*1682A>G rs17026341 0.00058
NM_003242.6(TGFBR2):c.*848C>T rs17026336 0.00056
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_003242.6(TGFBR2):c.*312A>T rs576840706 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_003242.6(TGFBR2):c.*352A>G rs565524213 0.00004
NM_003242.6(TGFBR2):c.*988C>T rs138036906 0.00004
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_003242.6(TGFBR2):c.*1075C>T rs544093849 0.00003
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys) rs144701411 0.00002
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_003242.6(TGFBR2):c.*1285A>T rs574876197 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_003242.6(TGFBR2):c.*859G>A rs548242538
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612

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