ClinVar Miner

List of variants in gene TGFBR1 reported as uncertain significance for Loeys-Dietz syndrome 1

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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_004612.3(TGFBR1):c.97+23_97+26dupGGCG rs886063221
NM_004612.4(TGFBR1):c.*1223A>G rs886063229
NM_004612.4(TGFBR1):c.*1250G>T rs886063230
NM_004612.4(TGFBR1):c.*1269T>G rs189032587
NM_004612.4(TGFBR1):c.*1368C>A rs886063231
NM_004612.4(TGFBR1):c.*1431G>T rs886063232
NM_004612.4(TGFBR1):c.*1687A>G rs886063233
NM_004612.4(TGFBR1):c.*1704G>T rs886063234
NM_004612.4(TGFBR1):c.*1772A>C rs201191009
NM_004612.4(TGFBR1):c.*1787T>C rs886063235
NM_004612.4(TGFBR1):c.*1924G>T rs886063236
NM_004612.4(TGFBR1):c.*1959G>T rs886063237
NM_004612.4(TGFBR1):c.*2081G>T rs200898127
NM_004612.4(TGFBR1):c.*2092G>T rs199545273
NM_004612.4(TGFBR1):c.*2095T>G rs201780012
NM_004612.4(TGFBR1):c.*2101_*2102insGT rs886063239
NM_004612.4(TGFBR1):c.*2103T>G rs7871490
NM_004612.4(TGFBR1):c.*2104_*2105insGT rs1554703244
NM_004612.4(TGFBR1):c.*2105dup rs200529894
NM_004612.4(TGFBR1):c.*2106G>T rs201054018
NM_004612.4(TGFBR1):c.*2106_*2108GTT[2] rs886063241
NM_004612.4(TGFBR1):c.*2279T>C rs886063242
NM_004612.4(TGFBR1):c.*2410C>T rs200722893
NM_004612.4(TGFBR1):c.*2547A>G rs886063243
NM_004612.4(TGFBR1):c.*2634_*2636TCT[1] rs886063244
NM_004612.4(TGFBR1):c.*2713G>T rs886063245
NM_004612.4(TGFBR1):c.*2768T>A rs886063246
NM_004612.4(TGFBR1):c.*2791G>A rs201846922
NM_004612.4(TGFBR1):c.*2799C>T rs200274678
NM_004612.4(TGFBR1):c.*2833G>A rs200520116
NM_004612.4(TGFBR1):c.*2880C>A rs886063247
NM_004612.4(TGFBR1):c.*2980G>T rs886063248
NM_004612.4(TGFBR1):c.*3056C>A rs886063249
NM_004612.4(TGFBR1):c.*309C>T rs886063226
NM_004612.4(TGFBR1):c.*311G>A rs200804500
NM_004612.4(TGFBR1):c.*3314A>G rs200374520
NM_004612.4(TGFBR1):c.*3317C>G rs201113438
NM_004612.4(TGFBR1):c.*3382T>G rs200080374
NM_004612.4(TGFBR1):c.*3432G>T rs886063251
NM_004612.4(TGFBR1):c.*3482C>G rs201952588
NM_004612.4(TGFBR1):c.*3567G>A rs886063252
NM_004612.4(TGFBR1):c.*3716T>C rs886063253
NM_004612.4(TGFBR1):c.*3790C>T rs201101442
NM_004612.4(TGFBR1):c.*3881G>T rs886063254
NM_004612.4(TGFBR1):c.*4055G>T rs886063255
NM_004612.4(TGFBR1):c.*4088G>T rs886063256
NM_004612.4(TGFBR1):c.*4147G>A rs570685518
NM_004612.4(TGFBR1):c.*4467C>A rs886063257
NM_004612.4(TGFBR1):c.*4793A>G rs77001090
NM_004612.4(TGFBR1):c.*4804dup rs561572489
NM_004612.4(TGFBR1):c.*512_*516del rs777186940
NM_004612.4(TGFBR1):c.*709C>T rs886063228
NM_004612.4(TGFBR1):c.*756C>A rs200926268
NM_004612.4(TGFBR1):c.-13T>C rs886063220
NM_004612.4(TGFBR1):c.-43C>A rs886063219
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) rs886063222
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) rs1554700650
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037

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