List of variants studied for Meckel syndrome, type 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)	rs187003641	0.00142
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)	rs372190684	0.00014
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)	rs377177061	0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	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_017777.4(MKS1):c.110A>G (p.Asn37Ser)	rs587779734	0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)	rs797045706	0.00001
NM_001378615.1(CC2D2A):c.4179+1del	rs386833760
NM_017777.4(MKS1):c.1408-1dup	rs762668200
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)	rs587779733

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