ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 8
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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)
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser) rs1650362306
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) rs1557804111
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) rs1570655570
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter) rs2101143618

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