ClinVar Miner

List of variants reported as pathogenic for aortic valve disease by Invitae

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74035344)_(74068720_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
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.593dup (p.Asn198fs) rs1565939215
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.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_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1482del (p.Val495fs)
NM_000501.4(ELN):c.163+2T>C
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1817del (p.Leu606fs)
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.840_843dup (p.Val282fs)
NM_000501.4(ELN):c.869del (p.Pro290fs)
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter)
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)
NM_181486.4(TBX5):c.246del (p.Met83fs)
NM_181486.4(TBX5):c.663+1G>A
NM_181486.4(TBX5):c.69del (p.Cys24fs)
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378
NM_181486.4(TBX5):c.727del (p.Glu243fs)

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