List of variants in gene NOTCH1 reported as uncertain significance by Revvity Omics, Revvity

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val)	rs200370953	0.00056
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met)	rs149057410	0.00048
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)	rs201620755	0.00026
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp)	rs199672693	0.00011
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)	rs374352922	0.00008
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)	rs764921648	0.00005
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn)	rs770729642	0.00004
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=)	rs373787791	0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)	rs200232299	0.00003
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)	rs755124691	0.00003
NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp)	rs759834538	0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)	rs757497167	0.00001
NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala)	rs1843012616	0.00001
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr)	rs371414501	0.00001
NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe)	rs1843292131
NM_017617.5(NOTCH1):c.1609T>G (p.Cys537Gly)	rs2540457887
NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn)	rs1589062647
NM_017617.5(NOTCH1):c.2740+5G>A	rs2133352835
NM_017617.5(NOTCH1):c.3171+3G>A	rs1431447273
NM_017617.5(NOTCH1):c.6806G>A (p.Gly2269Asp)	rs2133317148
NM_017617.5(NOTCH1):c.7556dup (p.Trp2520fs)	rs2540419925

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