List of variants reported as pathogenic for Meckel-Gruber syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter)	rs768237094	0.00001
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)	rs2109029867
NM_001378615.1(CC2D2A):c.3626del (p.Pro1209fs)	rs2109077865
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
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_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)	rs587779733
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)	rs886039805

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