ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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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_000012.11:g.(?_114793317)_(114841723_?)del
NM_000192.3(TBX5):c.1104C>G (p.Tyr368Ter)
NM_000192.3(TBX5):c.278dupG (p.Leu94Profs) rs1555226420
NM_000192.3(TBX5):c.390delC (p.Met131Cysfs)
NM_000192.3(TBX5):c.432dup (p.Gly145Argfs) rs1555226322
NM_000192.3(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_000192.3(TBX5):c.456delC (p.Val153Serfs) rs1057520136
NM_000192.3(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_000192.3(TBX5):c.595dup (p.Thr199Asnfs) rs1555226005
NM_000192.3(TBX5):c.629_632dup (p.Ile212Valfs) 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)
NM_000192.3(TBX5):c.958delA (p.Ile320Phefs) rs878853750
NM_001278939.1(ELN):c.1227del (p.Gly410Glufs)
NM_001278939.1(ELN):c.295_296del (p.Ala99Cysfs) rs1554669297
NM_001278939.1(ELN):c.383delT (p.Val128Glyfs) rs1554669800
NM_001278939.1(ELN):c.417delG (p.Val141Cysfs) rs878854452
NM_001278939.1(ELN):c.643+1_643+2delinsAG rs1554672602
NM_001278939.1(ELN):c.690T>A (p.Tyr230Ter)
NM_001278939.1(ELN):c.800-2A>G rs727503027
NM_001278939.1(ELN):c.944A>G (p.Lys315Arg) rs1554676454

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