ClinVar Miner

List of variants in gene NOTCH1 reported as likely pathogenic for Adams-Oliver syndrome 5

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NC_000009.12:g.(?_136496071)_(136523980_?)del
NM_017617.5(NOTCH1):c.1099+1G>T
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) rs587777736
NM_017617.5(NOTCH1):c.1345T>C (p.Cys449Arg) rs864622057
NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr) rs864622058
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) rs1057523819
NM_017617.5(NOTCH1):c.1627_1669+11del
NM_017617.5(NOTCH1):c.2015-2A>G
NM_017617.5(NOTCH1):c.2015-2del rs2133361331
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2319_2354-74del rs2133358321
NM_017617.5(NOTCH1):c.2587+1G>T
NM_017617.5(NOTCH1):c.2842G>T (p.Glu948Ter)
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.4587-1G>T
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
NM_017617.5(NOTCH1):c.6913_6916del (p.Asn2305fs)
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
Single allele

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