List of variants in gene NOTCH2 reported as likely 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)	rs1174406807	0.00002
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)	rs2526300230
NM_024408.4(NOTCH2):c.2569dup (p.Tyr857fs)
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)	rs1650362306
NM_024408.4(NOTCH2):c.2626G>T (p.Glu876Ter)
NM_024408.4(NOTCH2):c.3338-2A>G
NM_024408.4(NOTCH2):c.416-2A>G
NM_024408.4(NOTCH2):c.4756del (p.Glu1586fs)
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)	rs1557804884
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter)	rs1557804111
NM_024408.4(NOTCH2):c.6028-5T>A	rs1649088431
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)	rs2526108695
NM_024408.4(NOTCH2):c.6450del (p.Val2151fs)	rs2101144082
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer)	rs1570655570
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter)	rs2101143618
NM_024408.4(NOTCH2):c.6640del (p.Ala2214fs)
NM_024408.4(NOTCH2):c.905dup (p.Cys302fs)

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