ClinVar Miner

List of variants reported as pathogenic for Senior-Loken syndrome 9

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP
NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg) rs750055952
NM_015650.4(TRAF3IP1):c.1575+6T>G rs886037897
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met) rs886037898
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala) rs886037896
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter) rs765903345
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met) rs886037899

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