ClinVar Miner

List of variants studied for juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome by Myriad Genetics, Inc.

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005359.6(SMAD4):c.667+9T>C rs776523203 0.00006
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.1140-11T>A rs1224777335 0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792 0.00002
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) rs564408927 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005359.6(SMAD4):c.249+9T>C rs770523387 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) rs750355699 0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980 0.00001
NM_005359.6(SMAD4):c.667+3G>A rs757971589 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) rs751985298 0.00001
NC_000018.10:g.51058125del
NC_000018.10:g.51076638del
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1059C>A (p.Tyr353Ter)
NM_005359.6(SMAD4):c.1067del (p.Pro356fs) rs1599195489
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs) rs730881952
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1308+2T>G rs1555686624
NM_005359.6(SMAD4):c.1309-2A>G
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1355del (p.Ala452fs)
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) rs1555687388
NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter)
NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)
NM_005359.6(SMAD4):c.1563_1567del (p.Pro522fs)
NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys)
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) rs786204166
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) rs587781977
NM_005359.6(SMAD4):c.249+1G>T rs2144402036
NM_005359.6(SMAD4):c.250-2A>G rs1555685142
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.586dup (p.Ser196fs)
NM_005359.6(SMAD4):c.593del (p.Pro198fs)
NM_005359.6(SMAD4):c.624dup (p.Thr209fs)
NM_005359.6(SMAD4):c.692del (p.Gly231fs)
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
NM_005359.6(SMAD4):c.737del (p.Pro246fs) rs2144427288
NM_005359.6(SMAD4):c.747dup (p.Gln250fs)
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.753_760delinsGTAG (p.Asn251_Thr254delinsLysTer)
NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)
NM_005359.6(SMAD4):c.788-1G>A
NM_005359.6(SMAD4):c.788-1G>C
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTAG (p.Trp268delinsCysTer)
NM_005359.6(SMAD4):c.854del (p.Asn285fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg) rs1555685979
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) rs375185293

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