ClinVar Miner

List of variants reported as pathogenic for Adams-Oliver syndrome by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NC_000009.11:g.(?_138683633)_(139440248_?)del
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs)
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter)

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