ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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: 2

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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.6057C>T (p.Ala2019=)	rs758702512	0.00010

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