ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome due to a NOTCH2 point mutation by Baylor Genetics

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)	rs2526300230
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)	rs1650362306
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)	rs1557804884

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