ClinVar Miner

List of variants studied for Meckel-Gruber syndrome by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

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Total variants: 17
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HGVS dbSNP
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753
NM_001164310.3(FAM166B):c.*12_*13insTAAG
NM_001310135.3(TTC6):c.3322C>T (p.Arg1108Ter)
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) rs886039806
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg) rs886039804
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.261+2T>A rs886039803
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_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_033395.2(CEP295):c.2603del (p.Gln868fs)
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs) rs886039793
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup) rs730882232
NM_198515.3(CCDC172):c.294_297del (p.Lys98fs)

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