List of variants in gene combination LOC126860794, NOTCH1 studied for NOTCH1-related disorder

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: 10

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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.6108C>T (p.Ala2036=)	rs369167693	0.00046
NM_017617.5(NOTCH1):c.6082+10C>T	rs114120958	0.00019
NM_017617.5(NOTCH1):c.6180+9G>A	rs200371378	0.00015
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=)	rs201625763	0.00009
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=)	rs773621396	0.00005
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys)	rs759553984	0.00001
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)	rs759643831	0.00001
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)	rs1554826746
NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys)	rs1589054589

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