ClinVar Miner

List of variants reported as pathogenic for aortic disease

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP
46;XY;inv(6)(p22q13)dn
46;XY;t(1;5)(p35.3;q31.3)dn
ELN, 1-BP DEL, 1821C
ELN, 1-BP INS, FS615TER
ELN, 100-KB DEL
ELN, 30-KB DEL
ELN, ARG610GLN AND 24-BP DUP, NT1034
ELN, IVS15AS, A-G, -2
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
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
NC_012920.1:m.8420_8421insATA rs1569484208
NC_012920.1:m.8751_8752insAAA rs1569484234
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_000192.3(TBX5):c.163_172del (p.Lys55fs)
NM_000192.3(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_000192.3(TBX5):c.362+2T>C
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.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.835C>T (p.Arg279Ter) rs863223788
NM_000192.3(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_000192.3(TBX5):c.926_927del (p.Asn309fs)
NM_000192.3(TBX5):c.958del (p.Ile320fs) rs878853750
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1482del (p.Val495fs)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.163+2T>C
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
NM_000501.4(ELN):c.634A>T (p.Lys212Ter) rs1554672587
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) rs1565977796
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) rs1057515422
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) rs1057515423
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) rs41309766
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
NOTCH1, PRO1797HIS

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