List of variants in gene combination LOC126860794, NOTCH1 reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	rs186453356	0.00236
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	rs188357478	0.00108
NM_017617.5(NOTCH1):c.6083-4G>A	rs570242146	0.00008
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	rs544856644	0.00003

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