ClinVar Miner

List of variants reported as likely benign for Meckel-Gruber syndrome

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Total variants: 5
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HGVS dbSNP
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_025114.4(CEP290):c.*19_*22del rs142288119

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