ClinVar Miner

List of variants studied for aortic valve disease 1 by Baylor Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)
NM_017617.5(NOTCH1):c.1256-15G>A
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445

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