ClinVar Miner

List of variants reported as uncertain significance for aortic disorder by Baylor Genetics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.1256-15G>A rs200086842 0.00002
NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His) rs1894552779 0.00001
NM_005585.5(SMAD6):c.1224C>G (p.His408Gln) rs1381118550 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)
NM_005585.5(SMAD6):c.298G>A (p.Ala100Thr) rs946134204
NM_005585.5(SMAD6):c.569C>T (p.Thr190Met) rs1893040158
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del) rs1843316084
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) rs1843150410
NM_017617.5(NOTCH1):c.4583_4586+2dup
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met) rs750185397
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)

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