List of variants reported as likely pathogenic for Meckel syndrome, type 2

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	rs755459875	0.00003
NM_001173990.3(TMEM216):c.35-2A>G	rs1057517528	0.00002
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	rs1057517512	0.00001
NM_001173990.3(TMEM216):c.34+2T>C	rs1057517498	0.00001
NM_001173990.3(TMEM216):c.137-1G>A	rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	rs1554972556
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	rs767384710
NM_001173990.3(TMEM216):c.230-2A>G	rs1211592806
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala)	rs386833830
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	rs147267631
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg)	rs386833831

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