ClinVar Miner

List of variants reported as likely pathogenic by MVZ Praenatalmedizin und Genetik Nuernberg

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Total variants: 4
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NM_000051.3(ATM):c.7089+1G>T rs777741666
NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001330368.2(C11orf65):c.640+20516del rs1591387383

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