ClinVar Miner

List of variants studied for congenital anomaly of the great arteries by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
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
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975

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