List of variants reported as pathogenic for Meckel syndrome by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_024809.5(TCTN2):c.1506-2A>G	rs374349989	0.00002
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)	rs781206278
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)	rs386833749
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)	rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)	rs267606719

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