List of variants reported as likely pathogenic for Meckel syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015681.6(B9D1):c.341+2T>C	rs143149764	0.00009
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	rs377177061	0.00006
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	rs386834180	0.00004
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)	rs587779732	0.00003
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)	rs587779736	0.00002
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)	rs368720062	0.00001
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs)	rs386833745

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