ClinVar Miner

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

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ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_002734.4(PRKAR1A):c.620A>G (p.Tyr207Cys)
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674
NM_025133.4(FBXO11):c.1893G>C (p.Lys631Asn)

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