ClinVar Miner

List of variants reported as likely benign for Aortic valve disease 1; Adams-Oliver syndrome 5

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002

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