ClinVar Miner

List of variants reported as uncertain significance for Loeys-Dietz syndrome 4 by Invitae

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
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.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.1130G>A (p.Cys377Tyr) rs1060502828
NM_003239.4(TGFB3):c.1151A>G (p.Glu384Gly) rs777902992
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.16C>G (p.Gln6Glu)
NM_003239.4(TGFB3):c.188C>A (p.Thr63Asn)
NM_003239.4(TGFB3):c.1A>G (p.Met1Val)
NM_003239.4(TGFB3):c.221A>G (p.Asn74Ser) rs1279947435
NM_003239.4(TGFB3):c.235C>G (p.Leu79Val)
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.351C>T (p.His117=) rs375232060
NM_003239.4(TGFB3):c.352+2dup rs1566686800
NM_003239.4(TGFB3):c.389A>G (p.Lys130Arg) rs780051351
NM_003239.4(TGFB3):c.398G>A (p.Arg133His)
NM_003239.4(TGFB3):c.412T>G (p.Ser138Ala) rs201453600
NM_003239.4(TGFB3):c.428G>T (p.Arg143Ile)
NM_003239.4(TGFB3):c.431C>A (p.Thr144Asn)
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.505G>A (p.Glu169Lys) rs1555360808
NM_003239.4(TGFB3):c.516+4A>T rs1252391096
NM_003239.4(TGFB3):c.517-6C>G rs45586636
NM_003239.4(TGFB3):c.521T>A (p.Leu174His) rs869025534
NM_003239.4(TGFB3):c.550C>T (p.Arg184Cys)
NM_003239.4(TGFB3):c.557T>G (p.Ile186Ser) rs763289805
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.754+5C>T rs754211381
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.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.891G>T (p.Arg297Ser) rs773168068
NM_003239.4(TGFB3):c.908A>C (p.Asp303Ala)
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.956C>T (p.Pro319Leu)
NM_003239.4(TGFB3):c.965T>C (p.Ile322Thr) rs762643638
NM_003239.4(TGFB3):c.97G>A (p.Gly33Ser) rs781353815
NM_003239.4(TGFB3):c.986G>C (p.Gly329Ala)

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