ClinVar Miner

List of variants reported as likely benign for aortic valve disease 1 by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521

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