ClinVar Miner

List of variants studied for Meckel-Gruber syndrome by Illumina Clinical Services Laboratory,Illumina

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Total variants: 46
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HGVS dbSNP
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001378615.1(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
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_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_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277
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.3309+2_3309+3dup rs886049881
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.5227-14del rs747878752
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425
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.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171

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