ClinVar Miner

List of variants reported as likely pathogenic by Gene Discovery Core-Manton Center,Boston Children's Hospital

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Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674
NM_025133.4(FBXO11):c.1893G>C (p.Lys631Asn) rs1572764737
NM_212472.2(PRKAR1A):c.620A>G (p.Tyr207Cys) rs1600486197

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