List of variants reported as likely pathogenic for Meckel-Gruber syndrome by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)	rs397514753	0.00005
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)	rs886039806	0.00003
NM_001044385.3(TMEM237):c.869+1G>A	rs730882231
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)	rs587777145
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)	rs886039804
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)	rs730882233
NM_024715.4(TXNDC15):c.103+1G>A	rs886039792
NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)	rs886039791
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs)	rs886039793
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup)	rs730882232

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