ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00002
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val) rs782757612 0.00001
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064 0.00001
NM_024408.4(NOTCH2):c.1141A>C (p.Ser381Arg)
NM_024408.4(NOTCH2):c.1450C>T (p.Pro484Ser)
NM_024408.4(NOTCH2):c.1682-1G>A rs2101137614
NM_024408.4(NOTCH2):c.19G>T (p.Ala7Ser) rs2101452527
NM_024408.4(NOTCH2):c.2338A>G (p.Arg780Gly) rs782487598
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser) rs2101122120
NM_024408.4(NOTCH2):c.2686A>C (p.Met896Leu) rs2526231854
NM_024408.4(NOTCH2):c.2896G>C (p.Asp966His) rs782556856
NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser) rs1401457961
NM_024408.4(NOTCH2):c.3302C>T (p.Pro1101Leu) rs1553195968
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile) rs781976514
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val) rs1649454489
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) rs1396873392
NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro) rs745406752
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro) rs1570660922
NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser) rs1649240420
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu) rs1649072477
NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly) rs1557834060
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610

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