List of variants reported as pathogenic for Meckel syndrome by Baylor Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	rs267606916	0.00010
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	rs397514753	0.00005
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)	rs386833763	0.00001
NM_001378615.1(CC2D2A):c.2728C>T (p.Arg910Ter)	rs781206278
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)	rs1721483506
NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs)	rs1966500186
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)	rs1576660495

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