ClinVar Miner

List of variants reported as likely pathogenic by Snyder Lab, Genetics Department,Stanford University

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Total variants: 5
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NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281
NM_003000.2(SDHB):c.71dup (p.Ala25fs) rs1131691057
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700

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