List of variants in gene NOTCH2 reported as pathogenic by Eurofins NTD LLC (GA)

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs)	rs1553200134
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter)	rs1553199298
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs)	rs1553195973
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs)	rs1557812162
NM_024408.4(NOTCH2):c.4005+1G>A	rs1557807153
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter)	rs1553194093
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs)	rs927740391
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs)	rs1557803353
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter)	rs312262801

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