ClinVar Miner

List of variants studied for aortic valve disease by Invitae

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73449674)_(73483050_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114839611)_(114839745_?)del
NC_000012.11:g.(?_114839621)_(114839735_?)del
NM_000192.3(TBX5):c.1064G>A (p.Arg355His) rs145784562
NM_000192.3(TBX5):c.1084C>G (p.Gln362Glu) rs765204502
NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) rs143068551
NM_000192.3(TBX5):c.1162G>A (p.Glu388Lys) rs139371720
NM_000192.3(TBX5):c.1208G>A (p.Ser403Asn)
NM_000192.3(TBX5):c.1242C>A (p.Thr414=)
NM_000192.3(TBX5):c.1281C>T (p.Ser427=) rs6489957
NM_000192.3(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456
NM_000192.3(TBX5):c.1545C>T (p.Ser515=) rs186780790
NM_000192.3(TBX5):c.163_172del (p.Lys55fs)
NM_000192.3(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_000192.3(TBX5):c.309C>T (p.Leu103=) rs28730763
NM_000192.3(TBX5):c.322C>T (p.Pro108Ser) rs376621016
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.362+2T>C
NM_000192.3(TBX5):c.363-2A>G rs1565941072
NM_000192.3(TBX5):c.390del (p.Met131fs) rs1565941046
NM_000192.3(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_000192.3(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_000192.3(TBX5):c.456del (p.Val153fs) rs1057520136
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.54C>A (p.Asp18Glu) rs1479545982
NM_000192.3(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_000192.3(TBX5):c.579A>G (p.Gly193=) rs967802452
NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_000192.3(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_000192.3(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_000192.3(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_000192.3(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_000192.3(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000192.3(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_000192.3(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_000192.3(TBX5):c.902C>G (p.Ser301Cys)
NM_000192.3(TBX5):c.926_927del (p.Asn309fs)
NM_000192.3(TBX5):c.958del (p.Ile320fs) rs878853750
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+6G>A rs1216357938
NM_000501.4(ELN):c.134-4dup rs878854451
NM_000501.4(ELN):c.1358-185G>A rs782737850
NM_000501.4(ELN):c.1358-192C>T rs185060213
NM_000501.4(ELN):c.1358-199G>A
NM_000501.4(ELN):c.1358-209C>T
NM_000501.4(ELN):c.1358-234G>C
NM_000501.4(ELN):c.1358-253G>A rs370619098
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.1482del (p.Val495fs)
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494
NM_000501.4(ELN):c.163+2T>C
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.1747+82C>A rs186744935
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.18G>A (p.Ala6=)
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala) rs200041224
NM_000501.4(ELN):c.1956_1970del (p.648_652GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1993+4A>G rs781872334
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075
NM_000501.4(ELN):c.2086+5G>C rs111866046
NM_000501.4(ELN):c.2086+8del rs782078342
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445
NM_000501.4(ELN):c.2132-6G>A rs781831349
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.427+8C>T rs55868272
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
NM_000501.4(ELN):c.686-1G>A
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244
NM_000501.4(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.993G>A (p.Pro331=) rs371757750
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His)
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser)
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr)
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val)
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser)
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu)
NM_005585.5(SMAD6):c.171C>G (p.Arg57=) rs753456441
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile)
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) rs1060500751
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) rs946785791
NM_005585.5(SMAD6):c.399C>T (p.Asp133=) rs760472203
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu)
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly)
NM_005585.5(SMAD6):c.458_464CGGGCGG[1] (p.Gly156fs)
NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
NM_005585.5(SMAD6):c.594C>T (p.Arg198=) rs565225133
NM_005585.5(SMAD6):c.683G>A (p.Arg228His)
NM_005585.5(SMAD6):c.752_754CCG[5] (p.Ala254dup)
NM_005585.5(SMAD6):c.75C>T (p.Gly25=) rs755856670
NM_005585.5(SMAD6):c.780C>T (p.Cys260=) rs754314545
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) rs750149627
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) rs199822239
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr) rs199531653

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