ClinVar Miner

List of variants in gene SMAD9 studied for hypertensive disorder

Included ClinVar conditions (60):
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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_001127217.3(SMAD9):c.12C>T (p.Thr4=) rs78237438 0.00747
NM_001127217.3(SMAD9):c.743C>A (p.Thr248Lys) rs79733377 0.00693
NM_001127217.3(SMAD9):c.756T>C (p.His252=) rs146836873 0.00368
NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln) rs78249575 0.00147
NM_001127217.3(SMAD9):c.487G>A (p.Ala163Thr) rs61753157 0.00145
NM_001127217.3(SMAD9):c.1004-8G>A rs146507864 0.00131
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_001127217.3(SMAD9):c.*94_*95del rs763993290 0.00113
NM_001127217.3(SMAD9):c.1035G>A (p.Val345=) rs150237947 0.00067
NM_001127217.3(SMAD9):c.828C>T (p.Val276=) rs142675092 0.00063
NM_001127217.3(SMAD9):c.1011C>G (p.His337Gln) rs149015682 0.00028
NM_001127217.3(SMAD9):c.1117G>A (p.Val373Ile) rs140504903 0.00019
NM_001127217.3(SMAD9):c.348A>G (p.Pro116=) rs182137303 0.00019
NM_001127217.3(SMAD9):c.48C>T (p.Pro16=) rs151312678 0.00019
NM_001127217.3(SMAD9):c.1260+17A>C rs374987262 0.00018
NM_001127217.3(SMAD9):c.449A>G (p.Tyr150Cys) rs138822893 0.00014
NM_001127217.3(SMAD9):c.1161C>A (p.Asn387Lys) rs562953157 0.00011
NM_001127217.3(SMAD9):c.434C>A (p.Pro145Gln) rs199957237 0.00011
NM_001127217.3(SMAD9):c.327G>A (p.Pro109=) rs150209766 0.00010
NM_001127217.3(SMAD9):c.781+2T>A rs770716081 0.00010
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_001127217.3(SMAD9):c.486C>T (p.Ser162=) rs149757390 0.00006
NM_001127217.3(SMAD9):c.767C>T (p.Ser256Leu) rs549928610 0.00006
NM_001127217.3(SMAD9):c.482G>A (p.Arg161His) rs200651392 0.00005
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=) rs141357701 0.00004
NM_001127217.3(SMAD9):c.781+18A>G rs900040342 0.00004
NM_001127217.3(SMAD9):c.1004-6C>T rs369967185 0.00003
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu) rs397514715 0.00003
NM_001127217.3(SMAD9):c.603G>T (p.Pro201=) rs934648707 0.00003
NM_001127217.3(SMAD9):c.971C>T (p.Thr324Met) rs752874017 0.00003
NM_001127217.3(SMAD9):c.522C>T (p.Asn174=) rs377089593 0.00002
NM_001127217.3(SMAD9):c.907G>A (p.Asp303Asn) rs369783485 0.00002
NM_001127217.3(SMAD9):c.1045T>G (p.Cys349Gly) rs1284819257 0.00001
NM_001127217.3(SMAD9):c.1098C>T (p.His366=) rs753371762 0.00001
NM_001127217.3(SMAD9):c.1243C>T (p.Arg415Trp) rs863223772 0.00001
NM_001127217.3(SMAD9):c.135A>G (p.Leu45=) rs537891440 0.00001
NM_001127217.3(SMAD9):c.679C>A (p.Pro227Thr) rs1429353457 0.00001
NM_001127217.3(SMAD9):c.685C>T (p.Leu229=) rs547463962 0.00001
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter) rs397514716 0.00001
NC_000013.10:g.(?_37446775)_(37453826_?)del
NM_001127217.3(SMAD9):c.*2179_*2180del rs886050156
NM_001127217.3(SMAD9):c.*2179_*2181del rs886050155
NM_001127217.3(SMAD9):c.*2179del rs886050157
NM_001127217.3(SMAD9):c.*2201_*2202del rs10579121
NM_001127217.3(SMAD9):c.*2202del rs10579121
NM_001127217.3(SMAD9):c.*298_*301del rs886050169
NM_001127217.3(SMAD9):c.*3542TA[11] rs71084449
NM_001127217.3(SMAD9):c.*3542TA[8] rs71084449
NM_001127217.3(SMAD9):c.*3542TA[9] rs71084449
NM_001127217.3(SMAD9):c.*3558_*3563del rs757843262
NM_001127217.3(SMAD9):c.*3560_*3565del rs141967694
NM_001127217.3(SMAD9):c.*3562CA[5] rs201352307
NM_001127217.3(SMAD9):c.*3562CA[6] rs201352307
NM_001127217.3(SMAD9):c.*3590del rs886050148
NM_001127217.3(SMAD9):c.*448_*452del rs886050167
NM_001127217.3(SMAD9):c.*666_*667del rs886050165
NM_001127217.3(SMAD9):c.*667AG[1] rs762757980
NM_001127217.3(SMAD9):c.1001A>G (p.Lys334Arg)
NM_001127217.3(SMAD9):c.1004-2A>G
NM_001127217.3(SMAD9):c.1008G>A (p.Val336=)
NM_001127217.3(SMAD9):c.1016A>G (p.Tyr339Cys) rs368571123
NM_001127217.3(SMAD9):c.1020C>T (p.Tyr340=)
NM_001127217.3(SMAD9):c.1035_1036del (p.Tyr346fs)
NM_001127217.3(SMAD9):c.1080G>A (p.Arg360=)
NM_001127217.3(SMAD9):c.111A>G (p.Ala37=)
NM_001127217.3(SMAD9):c.1128C>G (p.Ile376Met)
NM_001127217.3(SMAD9):c.1134C>T (p.Ser378=)
NM_001127217.3(SMAD9):c.1140C>T (p.Cys380=)
NM_001127217.3(SMAD9):c.1146C>T (p.Leu382=)
NM_001127217.3(SMAD9):c.1150G>A (p.Val384Ile)
NM_001127217.3(SMAD9):c.1171G>A (p.Ala391Thr)
NM_001127217.3(SMAD9):c.1197_1198insA (p.His400fs)
NM_001127217.3(SMAD9):c.1201G>T (p.Gly401Cys)
NM_001127217.3(SMAD9):c.1212C>T (p.Val404=)
NM_001127217.3(SMAD9):c.1243C>A (p.Arg415=)
NM_001127217.3(SMAD9):c.1260+10G>A
NM_001127217.3(SMAD9):c.1260G>C (p.Lys420Asn) rs1196179939
NM_001127217.3(SMAD9):c.1261-19C>G
NM_001127217.3(SMAD9):c.1270G>A (p.Ala424Thr)
NM_001127217.3(SMAD9):c.1283G>A (p.Arg428His)
NM_001127217.3(SMAD9):c.1321C>T (p.His441Tyr)
NM_001127217.3(SMAD9):c.1335A>C (p.Pro445=)
NM_001127217.3(SMAD9):c.1344G>A (p.Trp448Ter)
NM_001127217.3(SMAD9):c.136AAG[3] (p.Lys49del)
NM_001127217.3(SMAD9):c.136AAG[5] (p.Lys49dup) rs751217637
NM_001127217.3(SMAD9):c.137_140del (p.Lys46fs)
NM_001127217.3(SMAD9):c.137dup (p.Lys47fs)
NM_001127217.3(SMAD9):c.1383C>A (p.Asn461Lys)
NM_001127217.3(SMAD9):c.154A>G (p.Met52Val)
NM_001127217.3(SMAD9):c.163C>T (p.Leu55=)
NM_001127217.3(SMAD9):c.172G>T (p.Ala58Ser)
NM_001127217.3(SMAD9):c.177C>G (p.Leu59=)
NM_001127217.3(SMAD9):c.17C>T (p.Pro6Leu)
NM_001127217.3(SMAD9):c.185C>T (p.Pro62Leu)
NM_001127217.3(SMAD9):c.186G>A (p.Pro62=)
NM_001127217.3(SMAD9):c.199_232del (p.Lys67fs)
NM_001127217.3(SMAD9):c.201A>G (p.Lys67=)
NM_001127217.3(SMAD9):c.203dup (p.Cys68fs)
NM_001127217.3(SMAD9):c.205G>A (p.Val69Ile)
NM_001127217.3(SMAD9):c.207C>T (p.Val69=)
NM_001127217.3(SMAD9):c.209C>T (p.Thr70Met)
NM_001127217.3(SMAD9):c.214C>A (p.Pro72Thr)
NM_001127217.3(SMAD9):c.217C>T (p.Arg73Cys)
NM_001127217.3(SMAD9):c.218G>A (p.Arg73His) rs1453268397
NM_001127217.3(SMAD9):c.228C>A (p.Asp76Glu)
NM_001127217.3(SMAD9):c.228C>T (p.Asp76=)
NM_001127217.3(SMAD9):c.237G>A (p.Leu79=)
NM_001127217.3(SMAD9):c.251G>T (p.Arg84Leu)
NM_001127217.3(SMAD9):c.270_276dup (p.Cys93fs)
NM_001127217.3(SMAD9):c.281G>C (p.Arg94Pro) rs748334459
NM_001127217.3(SMAD9):c.282C>G (p.Arg94=)
NM_001127217.3(SMAD9):c.283G>T (p.Val95Leu)
NM_001127217.3(SMAD9):c.297G>A (p.Pro99=)
NM_001127217.3(SMAD9):c.308C>G (p.Ser103Cys)
NM_001127217.3(SMAD9):c.309C>T (p.Ser103=)
NM_001127217.3(SMAD9):c.315C>A (p.His105Gln)
NM_001127217.3(SMAD9):c.315C>T (p.His105=)
NM_001127217.3(SMAD9):c.318_322dup (p.Lys108delinsSerTer)
NM_001127217.3(SMAD9):c.336C>T (p.Cys112=)
NM_001127217.3(SMAD9):c.351T>C (p.Phe117=)
NM_001127217.3(SMAD9):c.362A>G (p.Gln121Arg) rs2138493283
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) rs2138492919
NM_001127217.3(SMAD9):c.412+15C>T
NM_001127217.3(SMAD9):c.412+16G>A
NM_001127217.3(SMAD9):c.412+18C>T
NM_001127217.3(SMAD9):c.412+7C>G
NM_001127217.3(SMAD9):c.413-7A>G
NM_001127217.3(SMAD9):c.419C>T (p.Pro140Leu)
NM_001127217.3(SMAD9):c.429C>T (p.Leu143=)
NM_001127217.3(SMAD9):c.430G>T (p.Val144Leu)
NM_001127217.3(SMAD9):c.437G>A (p.Arg146Lys)
NM_001127217.3(SMAD9):c.43A>G (p.Ser15Gly)
NM_001127217.3(SMAD9):c.442A>G (p.Ser148Gly)
NM_001127217.3(SMAD9):c.450T>C (p.Tyr150=)
NM_001127217.3(SMAD9):c.456C>T (p.Pro152=)
NM_001127217.3(SMAD9):c.458A>C (p.Gln153Pro)
NM_001127217.3(SMAD9):c.462C>T (p.Leu154=)
NM_001127217.3(SMAD9):c.483C>T (p.Arg161=)
NM_001127217.3(SMAD9):c.489C>G (p.Ala163=)
NM_001127217.3(SMAD9):c.499A>G (p.Ser167Gly)
NM_001127217.3(SMAD9):c.4C>G (p.His2Asp)
NM_001127217.3(SMAD9):c.507A>T (p.Pro169=)
NM_001127217.3(SMAD9):c.540T>C (p.Ser180=)
NM_001127217.3(SMAD9):c.542T>C (p.Phe181Ser)
NM_001127217.3(SMAD9):c.54G>A (p.Val18=)
NM_001127217.3(SMAD9):c.554C>T (p.Pro185Leu)
NM_001127217.3(SMAD9):c.555G>A (p.Pro185=)
NM_001127217.3(SMAD9):c.564_567dup (p.Pro190fs) rs765156859
NM_001127217.3(SMAD9):c.567C>G (p.Leu189=) rs2138436681
NM_001127217.3(SMAD9):c.585C>T (p.His195=)
NM_001127217.3(SMAD9):c.588G>T (p.Ala196=)
NM_001127217.3(SMAD9):c.599C>G (p.Ser200Cys)
NM_001127217.3(SMAD9):c.602C>T (p.Pro201Leu)
NM_001127217.3(SMAD9):c.606C>A (p.Cys202Ter) rs121918359
NM_001127217.3(SMAD9):c.606C>T (p.Cys202=)
NM_001127217.3(SMAD9):c.609G>A (p.Thr203=)
NM_001127217.3(SMAD9):c.622C>G (p.His208Asp)
NM_001127217.3(SMAD9):c.635G>A (p.Ser212Asn)
NM_001127217.3(SMAD9):c.659A>G (p.Tyr220Cys)
NM_001127217.3(SMAD9):c.663A>G (p.Gln221=)
NM_001127217.3(SMAD9):c.668C>G (p.Ser223Ter)
NM_001127217.3(SMAD9):c.670+14A>G
NM_001127217.3(SMAD9):c.670+7A>G
NM_001127217.3(SMAD9):c.671-11C>T
NM_001127217.3(SMAD9):c.671-1G>A
NM_001127217.3(SMAD9):c.686del (p.Leu229fs)
NM_001127217.3(SMAD9):c.708C>T (p.Ala236=)
NM_001127217.3(SMAD9):c.719A>G (p.Gln240Arg)
NM_001127217.3(SMAD9):c.71G>A (p.Trp24Ter)
NM_001127217.3(SMAD9):c.725G>T (p.Gly242Val)
NM_001127217.3(SMAD9):c.767del (p.Leu255_Ser256insTer)
NM_001127217.3(SMAD9):c.768G>A (p.Ser256=)
NM_001127217.3(SMAD9):c.775A>C (p.Asn259His)
NM_001127217.3(SMAD9):c.781+17C>T rs2138394060
NM_001127217.3(SMAD9):c.781+9C>T
NM_001127217.3(SMAD9):c.792A>T (p.Pro264=)
NM_001127217.3(SMAD9):c.802G>A (p.Glu268Lys)
NM_001127217.3(SMAD9):c.810_811dup (p.Gln271fs) rs2138382043
NM_001127217.3(SMAD9):c.811C>T (p.Gln271Ter)
NM_001127217.3(SMAD9):c.812del (p.Gln271fs)
NM_001127217.3(SMAD9):c.824C>T (p.Ser275Leu)
NM_001127217.3(SMAD9):c.825G>A (p.Ser275=)
NM_001127217.3(SMAD9):c.830C>T (p.Ala277Val)
NM_001127217.3(SMAD9):c.850C>A (p.Arg284=)
NM_001127217.3(SMAD9):c.850C>T (p.Arg284Ter)
NM_001127217.3(SMAD9):c.851G>T (p.Arg284Leu)
NM_001127217.3(SMAD9):c.854T>C (p.Val285Ala)
NM_001127217.3(SMAD9):c.862A>T (p.Thr288Ser)
NM_001127217.3(SMAD9):c.864A>G (p.Thr288=)
NM_001127217.3(SMAD9):c.868C>T (p.Gln290Ter)
NM_001127217.3(SMAD9):c.879C>T (p.Ser293=)
NM_001127217.3(SMAD9):c.87_89del (p.Glu31del)
NM_001127217.3(SMAD9):c.881G>A (p.Arg294Gln)
NM_001127217.3(SMAD9):c.885T>C (p.Ser295=)
NM_001127217.3(SMAD9):c.885T>G (p.Ser295Arg)
NM_001127217.3(SMAD9):c.892A>G (p.Ile298Val)
NM_001127217.3(SMAD9):c.919A>G (p.Asn307Asp)
NM_001127217.3(SMAD9):c.920A>G (p.Asn307Ser)
NM_001127217.3(SMAD9):c.922A>G (p.Arg308Gly)
NM_001127217.3(SMAD9):c.950C>G (p.Ser317Cys) rs781563938
NM_001127217.3(SMAD9):c.951T>G (p.Ser317=)
NM_001127217.3(SMAD9):c.953A>G (p.Asn318Ser)
NM_001127217.3(SMAD9):c.957A>G (p.Val319=)
NM_001127217.3(SMAD9):c.965A>G (p.Asn322Ser)
NM_001127217.3(SMAD9):c.966C>T (p.Asn322=)
NM_001127217.3(SMAD9):c.982A>G (p.Thr328Ala)
NM_001127217.3(SMAD9):c.98G>A (p.Trp33Ter)
NM_001127217.3(SMAD9):c.995T>C (p.Ile332Thr)
NM_001127217.3(SMAD9):c.997G>A (p.Gly333Arg)

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