List of variants in gene combination LOC130003020, NOTCH1 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.-152T>C	rs7028061	0.68312
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)	rs754613772	0.00015
NM_017617.5(NOTCH1):c.-2G>A	rs921361590	0.00005
NM_017617.5(NOTCH1):c.19C>A (p.Pro7Thr)	rs1397523469	0.00002
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	rs1473062369	0.00001
NM_017617.5(NOTCH1):c.-215_-203del	rs532729798
NM_017617.5(NOTCH1):c.-6G>T	rs1589085071
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)	rs878855023
NM_017617.5(NOTCH1):c.29G>A (p.Cys10Tyr)	rs1843806739
NM_017617.5(NOTCH1):c.32T>G (p.Leu11Arg)	rs2133408615
NM_017617.5(NOTCH1):c.46G>A (p.Ala16Thr)	rs2133408578
NM_017617.5(NOTCH1):c.51C>T (p.Leu17=)	rs1478932209

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