List of variants reported as likely pathogenic for Meckel syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)	rs369451049	0.00006
NM_025114.4(CEP290):c.2456A>T (p.Gln819Leu)	rs1209421607	0.00001
NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val)	rs762683334
NM_001378615.1(CC2D2A):c.4555T>G (p.Trp1519Gly)	rs1577406415
NM_030578.4(B9D2):c.15C>A (p.His5Gln)	rs1388769907
NM_153704.6(TMEM67):c.2357G>C (p.Gly786Ala)	rs386834193

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