ClinVar Miner

List of variants studied for Loeys-Dietz syndrome 4 by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000014.8:g.(?_76425035)_(76432048_?)del
NC_000014.8:g.(?_76425035)_(76438071_?)del
NM_003239.4(TGFB3):c.-30G>A rs770828281
NM_003239.4(TGFB3):c.1001A>G (p.His334Arg)
NM_003239.4(TGFB3):c.101A>G (p.His34Arg)
NM_003239.4(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.4(TGFB3):c.1048T>A (p.Tyr350Asn)
NM_003239.4(TGFB3):c.1054C>T (p.Arg352Cys) rs749485028
NM_003239.4(TGFB3):c.1080G>A (p.Thr360=) rs1555360212
NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) rs4252345
NM_003239.4(TGFB3):c.1130G>A (p.Cys377Tyr) rs1060502828
NM_003239.4(TGFB3):c.1149G>A (p.Leu383=) rs1555360032
NM_003239.4(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
NM_003239.4(TGFB3):c.1179G>A (p.Gly393=) rs1555360030
NM_003239.4(TGFB3):c.1183A>C (p.Thr395Pro) rs1566677868
NM_003239.4(TGFB3):c.1186C>T (p.Pro396Ser) rs899613458
NM_003239.4(TGFB3):c.1219A>G (p.Lys407Glu)
NM_003239.4(TGFB3):c.1230A>G (p.Lys410=) rs373100223
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003239.4(TGFB3):c.16C>G (p.Gln6Glu)
NM_003239.4(TGFB3):c.179C>T (p.Thr60Met) rs4252315
NM_003239.4(TGFB3):c.188C>A (p.Thr63Asn)
NM_003239.4(TGFB3):c.193G>A (p.Val65Ile) rs201059075
NM_003239.4(TGFB3):c.1A>G (p.Met1Val)
NM_003239.4(TGFB3):c.213C>T (p.Ala71=) rs753250192
NM_003239.4(TGFB3):c.221A>G (p.Asn74Ser) rs1279947435
NM_003239.4(TGFB3):c.235C>G (p.Leu79Val)
NM_003239.4(TGFB3):c.288C>T (p.Thr96=) rs201047560
NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) rs142047577
NM_003239.4(TGFB3):c.2T>A (p.Met1Lys) rs1555361455
NM_003239.4(TGFB3):c.301T>C (p.Tyr101His) rs1380630603
NM_003239.4(TGFB3):c.325G>A (p.Asp109Asn)
NM_003239.4(TGFB3):c.339G>A (p.Gly113=) rs886050798
NM_003239.4(TGFB3):c.345G>A (p.Ala115=) rs1060504730
NM_003239.4(TGFB3):c.34C>T (p.Leu12=) rs143612445
NM_003239.4(TGFB3):c.351C>T (p.His117=) rs375232060
NM_003239.4(TGFB3):c.352+2dup rs1566686800
NM_003239.4(TGFB3):c.353-1G>C rs1555360883
NM_003239.4(TGFB3):c.354C>T (p.Asn118=) rs145051522
NM_003239.4(TGFB3):c.357A>G (p.Glu119=) rs748598952
NM_003239.4(TGFB3):c.389A>G (p.Lys130Arg) rs780051351
NM_003239.4(TGFB3):c.398G>A (p.Arg133His)
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.412T>G (p.Ser138Ala) rs201453600
NM_003239.4(TGFB3):c.420G>A (p.Glu140=) rs878854609
NM_003239.4(TGFB3):c.428G>T (p.Arg143Ile)
NM_003239.4(TGFB3):c.431C>A (p.Thr144Asn)
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.454C>T (p.Arg152Trp) rs546744152
NM_003239.4(TGFB3):c.463C>T (p.Arg155Trp) rs868258653
NM_003239.4(TGFB3):c.464G>A (p.Arg155Gln)
NM_003239.4(TGFB3):c.487C>T (p.Arg163Trp) rs142601521
NM_003239.4(TGFB3):c.488G>A (p.Arg163Gln) rs920721092
NM_003239.4(TGFB3):c.504C>G (p.Ile168Met) rs148029842
NM_003239.4(TGFB3):c.504C>T (p.Ile168=) rs148029842
NM_003239.4(TGFB3):c.505G>A (p.Glu169Lys) rs1555360808
NM_003239.4(TGFB3):c.516+4A>T rs1252391096
NM_003239.4(TGFB3):c.517-1G>C rs1566682530
NM_003239.4(TGFB3):c.517-6C>G rs45586636
NM_003239.4(TGFB3):c.519C>T (p.Ile173=) rs754898843
NM_003239.4(TGFB3):c.521T>A (p.Leu174His) rs869025534
NM_003239.4(TGFB3):c.534G>A (p.Glu178=) rs148895204
NM_003239.4(TGFB3):c.550C>T (p.Arg184Cys)
NM_003239.4(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
NM_003239.4(TGFB3):c.558C>T (p.Ile186=) rs138389291
NM_003239.4(TGFB3):c.559G>A (p.Gly187Ser) rs201063101
NM_003239.4(TGFB3):c.580C>T (p.Arg194Trp) rs368004396
NM_003239.4(TGFB3):c.604T>G (p.Phe202Val) rs1474433492
NM_003239.4(TGFB3):c.611T>C (p.Val204Ala) rs1555360774
NM_003239.4(TGFB3):c.744C>A (p.Ile248=) rs45477900
NM_003239.4(TGFB3):c.754+5C>T rs754211381
NM_003239.4(TGFB3):c.755-5T>C rs768188445
NM_003239.4(TGFB3):c.757G>A (p.Val253Met)
NM_003239.4(TGFB3):c.77C>G (p.Thr26Ser) rs771543236
NM_003239.4(TGFB3):c.797G>A (p.Arg266His) rs142069844
NM_003239.4(TGFB3):c.797G>T (p.Arg266Leu) rs142069844
NM_003239.4(TGFB3):c.806A>G (p.Lys269Arg) rs771638085
NM_003239.4(TGFB3):c.813G>C (p.Lys271Asn) rs147601018
NM_003239.4(TGFB3):c.82A>C (p.Thr28Pro) rs564013964
NM_003239.4(TGFB3):c.840C>T (p.Leu280=) rs746293134
NM_003239.4(TGFB3):c.859C>T (p.Arg287Trp) rs757774610
NM_003239.4(TGFB3):c.872C>T (p.Pro291Leu) rs145121701
NM_003239.4(TGFB3):c.873G>A (p.Pro291=) rs370006165
NM_003239.4(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.4(TGFB3):c.88T>C (p.Leu30=) rs3917145
NM_003239.4(TGFB3):c.891G>T (p.Arg297Ser) rs773168068
NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.4(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003239.4(TGFB3):c.908A>C (p.Asp303Ala)
NM_003239.4(TGFB3):c.916del (p.Tyr306fs) rs1555360362
NM_003239.4(TGFB3):c.927-6T>A rs1555360247
NM_003239.4(TGFB3):c.934_936GAG[1] (p.Glu313del) rs760903557
NM_003239.4(TGFB3):c.948T>C (p.Cys316=) rs1364994786
NM_003239.4(TGFB3):c.956C>T (p.Pro319Leu)
NM_003239.4(TGFB3):c.965T>C (p.Ile322Thr) rs762643638
NM_003239.4(TGFB3):c.96C>T (p.Phe32=) rs748977151
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.4(TGFB3):c.97G>A (p.Gly33Ser) rs781353815
NM_003239.4(TGFB3):c.986G>C (p.Gly329Ala)
NM_003239.4(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222
NM_003239.4(TGFB3):c.99C>T (p.Gly33=) rs757663439

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