List of variants in gene NOTCH2 reported as pathogenic by OMIM

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.1331G>A (p.Cys444Tyr)	rs111033632
NM_024408.4(NOTCH2):c.5930-1G>A	rs312262798
NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs)	rs1557802353
NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)	rs387906746
NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)	rs387906748
NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)	rs387906747
NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)	rs1557801639
NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)	rs387906749
NOTCH2, 1-BP DEL, 6460T

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