ClinVar Miner

List of variants reported as likely pathogenic by Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM

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Total variants: 4
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NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del) rs869312805
NM_004958.4(MTOR):c.7216G>A (p.Val2406Met) rs1557739557
NM_138694.4(PKHD1):c.3118del (p.Arg1040fs)

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