List of variants in gene NOTCH1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	rs201620358	0.00223
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)	rs568700183	0.00045
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)	rs377217445	0.00035
NM_017617.5(NOTCH1):c.1100-8C>T	rs545088400	0.00030
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)	rs202133782	0.00020
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)	rs201779159	0.00010
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=)	rs369070550	0.00009
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)	rs199793164	0.00007
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=)	rs61751556	0.00004
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	rs201518848	0.00003
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=)	rs200462746	0.00002
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)	rs368963607	0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)	rs373806373	0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)	rs769693988	0.00001
NM_017617.5(NOTCH1):c.2005G>C (p.Gly669Arg)	rs778394191
NM_017617.5(NOTCH1):c.3231C>G (p.Thr1077=)	rs781656729
NM_017617.5(NOTCH1):c.5126T>C (p.Leu1709Pro)	rs886043624
NM_017617.5(NOTCH1):c.7554C>G (p.Asp2518Glu)	rs771410115

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