List of variants in gene combination LOC126860794, NOTCH1 reported as pathogenic

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)	rs1554826746
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn)	rs587777734
NM_017617.5(NOTCH1):c.6045del (p.Asn2016fs)	rs1554826736
NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs)	rs864622063

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