ClinVar Miner

List of variants studied for Meckel-Gruber syndrome

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Total variants: 78
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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_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001164310.3(FAM166B):c.*12_*13insTAAG
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001310135.3(TTC6):c.3322C>T (p.Arg1108Ter)
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) rs886039806
NM_001378615.1(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015681.6(B9D1):c.285_341+154del rs1598057395
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.110A>G (p.Asn37Ser) rs587779734
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277
NM_017777.4(MKS1):c.261+2T>A rs886039803
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
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_024715.4(TXNDC15):c.844C>T (p.Arg282Ter) rs768237094
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.*45G>A rs142969969
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_025114.4(CEP290):c.*139TAAA[1] rs886049876
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.673_674del (p.Leu225fs) rs886039805
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425
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_153240.4(NPHP3):c.-69A>G rs13099099
NM_153240.4(NPHP3):c.-70C>T rs886058006
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*231A>T rs753577987
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736
NM_198515.3(CCDC172):c.294_297del (p.Lys98fs)

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