List of variants reported as pathogenic for Meckel syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	rs377177061	0.00006
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)	rs370119681	0.00004
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	rs758991387	0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)	rs749439750	0.00002
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys)	rs118204052	0.00001
NM_025114.4(CEP290):c.297+1G>T	rs878853360	0.00001
NM_001378615.1(CC2D2A):c.293_299del (p.Glu97_Phe98insTer)
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)	rs375278294
NM_001378615.1(CC2D2A):c.4175del (p.Pro1392fs)
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)	rs386834159
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	rs763762899

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