ClinVar Miner

List of variants reported as uncertain significance for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome by All of Us Research Program, National Institutes of Health

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106 0.00002
NM_005359.6(SMAD4):c.-3C>G rs886053892 0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) rs1555686499 0.00001
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) rs147621330 0.00001
NM_005359.6(SMAD4):c.424+6T>C rs771456293 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845 0.00001
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) rs759288477 0.00001
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu) rs752575871 0.00001
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) rs757977781 0.00001
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr) rs1345146274 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly) rs1443767329 0.00001
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459 0.00001
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) rs876659391 0.00001
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) rs876659967 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) rs1229812463 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953 0.00001
NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg) rs1381679797 0.00001
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) rs748622028 0.00001
NM_005359.6(SMAD4):c.-7del
NM_005359.6(SMAD4):c.1000C>A (p.Gln334Lys)
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.1189G>A (p.Val397Ile) rs2144452046
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser) rs876658516
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1295G>A (p.Ser432Asn) rs770301659
NM_005359.6(SMAD4):c.1295G>C (p.Ser432Thr)
NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGC
NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGC
NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGC
NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
NM_005359.6(SMAD4):c.1308+5G>C
NM_005359.6(SMAD4):c.1352C>T (p.Ala451Val) rs1275841831
NM_005359.6(SMAD4):c.1393G>T (p.Val465Leu) rs786201798
NM_005359.6(SMAD4):c.1444A>C (p.Ile482Leu)
NM_005359.6(SMAD4):c.1444A>G (p.Ile482Val) rs864622736
NM_005359.6(SMAD4):c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC
NM_005359.6(SMAD4):c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG
NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG
NM_005359.6(SMAD4):c.1447+6_1447+7insGTTG
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly) rs1910483270
NM_005359.6(SMAD4):c.1489C>T (p.Arg497Cys) rs762118751
NM_005359.6(SMAD4):c.1490G>A (p.Arg497His) rs1910519516
NM_005359.6(SMAD4):c.1540C>T (p.Pro514Ser)
NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu)
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.156T>A (p.Asp52Glu)
NM_005359.6(SMAD4):c.1634T>C (p.Ile545Thr)
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) rs200595795
NM_005359.6(SMAD4):c.1639del (p.Asp547fs)
NM_005359.6(SMAD4):c.1647del (p.Gln549fs) rs1555687615
NM_005359.6(SMAD4):c.1657T>C (p.Ter553Arg)
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) rs1064795777
NM_005359.6(SMAD4):c.220A>G (p.Ile74Val)
NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser) rs876658568
NM_005359.6(SMAD4):c.244C>G (p.Leu82Val)
NM_005359.6(SMAD4):c.310C>G (p.Leu104Val)
NM_005359.6(SMAD4):c.353C>T (p.Ala118Val) rs2144405775
NM_005359.6(SMAD4):c.421A>G (p.Ile141Val)
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala) rs864622209
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) rs1057519259
NM_005359.6(SMAD4):c.464G>A (p.Ser155Asn) rs199790852
NM_005359.6(SMAD4):c.466ATG[1] (p.Met157del) rs786201939
NM_005359.6(SMAD4):c.473T>G (p.Val158Gly)
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.6(SMAD4):c.479A>T (p.Asp160Val)
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu) rs1568205010
NM_005359.6(SMAD4):c.524A>G (p.Glu175Gly)
NM_005359.6(SMAD4):c.541A>G (p.Thr181Ala) rs1599186888
NM_005359.6(SMAD4):c.544A>G (p.Ile182Val) rs1909797996
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.556C>A (p.Pro186Thr)
NM_005359.6(SMAD4):c.556C>G (p.Pro186Ala) rs1555685648
NM_005359.6(SMAD4):c.570A>G (p.Ala190=)
NM_005359.6(SMAD4):c.574A>G (p.Thr192Ala) rs1599186944
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg) rs1189715258
NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala)
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.617C>G (p.Ser206Cys)
NM_005359.6(SMAD4):c.625A>G (p.Thr209Ala) rs1555685670
NM_005359.6(SMAD4):c.635C>T (p.Ala212Val) rs1909801989
NM_005359.6(SMAD4):c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG
NM_005359.6(SMAD4):c.667+5G>C
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu) rs1163381283
NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu) rs1909893398
NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu)
NM_005359.6(SMAD4):c.745C>A (p.Gln249Lys)
NM_005359.6(SMAD4):c.746A>G (p.Gln249Arg) rs371536364
NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr) rs2144427543
NM_005359.6(SMAD4):c.788-12del rs1064794372
NM_005359.6(SMAD4):c.788-9A>C rs775484792
NM_005359.6(SMAD4):c.789C>G (p.Asn263Lys) rs763510526
NM_005359.6(SMAD4):c.830C>T (p.Thr277Ile)
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) rs1555685962
NM_005359.6(SMAD4):c.895G>C (p.Gly299Arg)
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser) rs757702252
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTAT
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTATTGGTGTTCCA
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala) rs1568206575
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) rs2144433151
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293
NM_005359.6(SMAD4):c.91G>C (p.Glu31Gln)
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val) rs1599191240
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile) rs1274926456

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