List of variants reported as pathogenic for Meckel syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	rs747025617	0.00003
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)	rs1412133967	0.00001

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