ClinVar Miner

List of variants studied for Alagille syndrome 2

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Total variants: 9
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HGVS dbSNP
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) rs1396873392
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro) rs1570660922
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) rs1557804111
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) rs1570655570

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