ClinVar Miner

List of variants in gene NOTCH1 reported as likely pathogenic

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) rs1290954710 0.00001
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276 0.00001
NM_017617.5(NOTCH1):c.5624A>G (p.Asn1875Ser) rs2133328514 0.00001
NC_000009.12:g.(?_136496071)_(136523980_?)del
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) rs202235419
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) rs1064795070
NM_017617.5(NOTCH1):c.1099+1G>T rs2133370541
NM_017617.5(NOTCH1):c.1108T>C (p.Cys370Arg) rs2133369963
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.1342C>T (p.Arg448Ter) rs869025494
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.140+2T>A rs2540492451
NM_017617.5(NOTCH1):c.141-2A>T rs1554730758
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter) rs779058908
NM_017617.5(NOTCH1):c.1581C>A (p.Tyr527Ter)
NM_017617.5(NOTCH1):c.1627_1669+11del rs2540457665
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) rs1843262329
NM_017617.5(NOTCH1):c.1670-2A>T rs2133364454
NM_017617.5(NOTCH1):c.1810del (p.Ile604fs) rs1589066272
NM_017617.5(NOTCH1):c.2014+1G>A rs515726232
NM_017617.5(NOTCH1):c.2015-1G>A
NM_017617.5(NOTCH1):c.2015-2A>G rs1293276034
NM_017617.5(NOTCH1):c.2015-2del rs2133361331
NM_017617.5(NOTCH1):c.201dup (p.Cys68fs)
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter) rs757495549
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter) rs1271941628
NM_017617.5(NOTCH1):c.2319_2354-74del rs2133358321
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) rs863224901
NM_017617.5(NOTCH1):c.2501_2502insT (p.Ser836fs)
NM_017617.5(NOTCH1):c.2587+1G>T rs1843175014
NM_017617.5(NOTCH1):c.2588-2A>C rs1057521857
NM_017617.5(NOTCH1):c.2740+5G>A rs2133352835
NM_017617.5(NOTCH1):c.2741-1G>A rs1843152606
NM_017617.5(NOTCH1):c.2842G>T (p.Glu948Ter) rs1843150542
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter) rs748813647
NM_017617.5(NOTCH1):c.3332_3347del (p.Asp1111fs)
NM_017617.5(NOTCH1):c.3511-1G>A rs2133345379
NM_017617.5(NOTCH1):c.3856C>T (p.Gln1286Ter) rs2133343317
NM_017617.5(NOTCH1):c.389del (p.Pro130fs) rs1843413593
NM_017617.5(NOTCH1):c.3948C>A (p.Cys1316Ter)
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe) rs1064796867
NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) rs587781259
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) rs1554727954
NM_017617.5(NOTCH1):c.4549G>C (p.Asp1517His) rs1554727954
NM_017617.5(NOTCH1):c.4552_4560del (p.Gly1518_Asp1520del) rs2133338569
NM_017617.5(NOTCH1):c.4587-1G>T rs2133337914
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs) rs1843055667
NM_017617.5(NOTCH1):c.4906G>T (p.Glu1636Ter) rs764006572
NM_017617.5(NOTCH1):c.4923dup (p.Asp1642Ter)
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His) rs515726233
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs) rs515726231
NM_017617.5(NOTCH1):c.5385-1G>A rs1843006535
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter) rs376236888
NM_017617.5(NOTCH1):c.5767C>T (p.Gln1923Ter)
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp) rs2133325416
NM_017617.5(NOTCH1):c.5934+2T>C
NM_017617.5(NOTCH1):c.599G>T (p.Gly200Val)
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro) rs786205600
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro) rs786205599
NM_017617.5(NOTCH1):c.6403del (p.Leu2135fs)
NM_017617.5(NOTCH1):c.6913_6916del (p.Asn2305fs) rs2540421459
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter) rs2540421105
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.977dup (p.Trp327fs) rs2540462269
Single allele

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