List of variants in gene NOTCH1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)	rs376104770	0.00013
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)	rs566680728	0.00007
NM_017617.5(NOTCH1):c.3326-4G>A	rs773638417	0.00005
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr)	rs767963898	0.00003
NM_017617.5(NOTCH1):c.3510+3G>A	rs372739350	0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)	rs763679772	0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)	rs769493139	0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)	rs200232299	0.00003
NM_017617.5(NOTCH1):c.2453T>C (p.Leu818Pro)	rs1298965823	0.00002
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)	rs755740633	0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn)	rs950236535	0.00001
NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys)	rs762050048	0.00001
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn)	rs757628476	0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)	rs775438678	0.00001
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)	rs1406056612	0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)	rs748933222	0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)	rs774374213	0.00001
NM_017617.5(NOTCH1):c.4636G>A (p.Asp1546Asn)	rs933070856	0.00001
NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser)	rs1439038323	0.00001
NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg)	rs370722609	0.00001
NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr)	rs767162403
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)	rs376468003
NM_017617.5(NOTCH1):c.2561C>T (p.Ser854Phe)	rs1843175525
NM_017617.5(NOTCH1):c.2828A>G (p.Glu943Gly)	rs1435335355
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His)	rs557049479
NM_017617.5(NOTCH1):c.3356G>A (p.Gly1119Glu)	rs765929402
NM_017617.5(NOTCH1):c.503C>A (p.Pro168His)	rs1330042951
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)	rs377294245
NM_017617.5(NOTCH1):c.6295G>C (p.Asp2099His)	rs766745955
NM_017617.5(NOTCH1):c.6427A>C (p.Asn2143His)	rs1842932672
NM_017617.5(NOTCH1):c.6926A>G (p.Glu2309Gly)	rs2540421434
NM_017617.5(NOTCH1):c.7098G>C (p.Gln2366His)	rs2540421103
NM_017617.5(NOTCH1):c.866-8C>A	rs2133371734

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