ClinVar Miner

List of variants in gene NOTCH1 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_017617.5(NOTCH1):c.1669+5G>A rs771590616 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NC_000009.11:g.(?_139404165)_(139405277_?)del
NC_000009.12:g.(?_136496061)_(136523989_?)del
NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs) rs1843317673
NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs) rs2133369937
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.1343G>A (p.Arg448Gln) rs864622056
NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) rs1564199476
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter) rs779058908
NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) rs864622059
NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs) rs2133363840
NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs) rs1843252720
NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs) rs1554729443
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) rs1554729118
NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) rs1554729113
NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs) rs1589064285
NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs)
NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter)
NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) rs1554728428
NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) rs1554728424
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer)
NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter)
NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) rs1564191302
NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter)
NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) rs864622060
NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs) rs1589058964
NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) rs1554730670
NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) rs587778569
NM_017617.5(NOTCH1):c.428del (p.Pro143fs) rs2133377982
NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter) rs2133339552
NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter) rs2133339381
NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter) rs1036363986
NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs)
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.4663G>T (p.Glu1555Ter) rs746342893
NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) rs2133337500
NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) rs864622061
NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs)
NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter) rs1589072024
NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs)
NM_017617.5(NOTCH1):c.743-1G>T rs587777735
NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs) rs2133372831
NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) rs1554730184

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