ClinVar Miner

List of variants reported as pathogenic for Meckel-Gruber syndrome

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Total variants: 8
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NM_015681.6(B9D1):c.285_341+154del rs1598057395
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.261+2T>A rs886039803
NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter) rs768237094
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805

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