List of variants in gene combination LOC126860794, NOTCH1 reported as uncertain significance by GeneDx

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	rs544856644	0.00003
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)	rs369621601	0.00002
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)	rs1371022203	0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	rs1454512890	0.00001
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val)	rs1085307562	0.00001
NM_017617.5(NOTCH1):c.6152G>A (p.Gly2051Glu)	rs1589054356	0.00001
NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu)	rs1085307554
NM_017617.5(NOTCH1):c.6061G>T (p.Val2021Phe)	rs759643831
NM_017617.5(NOTCH1):c.6074A>G (p.Asp2025Gly)
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala)	rs1374171839
NM_017617.5(NOTCH1):c.6151G>A (p.Gly2051Arg)	rs1842956333

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