List of variants in gene NOTCH2 reported as pathogenic for Alagille syndrome due to a NOTCH2 point mutation

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)	rs1570660422	0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)	rs1325403451	0.00001
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr)	rs111033632
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr)	rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A	rs312262798
NM_024408.4(NOTCH2):c.5930-2A>G
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr)	rs1649084282

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