ClinVar Miner

List of variants studied for Meckel syndrome by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153 0.00013
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_001378615.1(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.958G>A (p.Val320Ile) rs386834053 0.00002
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748 0.00001
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763 0.00001
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter) rs386834050 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys) rs386834188 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194 0.00001
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter) rs386834201 0.00001
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) rs386834205 0.00001
NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys) rs386834208 0.00001
NM_001080522.2(CC2D2A):c.3289delG rs386833751
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.341T>G (p.Leu114Arg) rs386833831
NM_001378615.1(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001378615.1(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001378615.1(CC2D2A):c.3145C>G (p.Arg1049Gly) rs386833750
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001378615.1(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001378615.1(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001378615.1(CC2D2A):c.4496+2T>A rs386833762
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998
NM_017777.4(MKS1):c.1048C>G (p.Gln350Glu) rs386834041
NM_017777.4(MKS1):c.1048C>T (p.Gln350Ter) rs386834041
NM_017777.4(MKS1):c.1407+2del rs386834042
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1490G>A (p.Arg497Lys) rs386834045
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer) rs386834047
NM_017777.4(MKS1):c.424C>T (p.Gln142Ter) rs386834049
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.180+2T>A rs386834150
NM_025114.4(CEP290):c.1860_1861del (p.Asp622fs) rs386834151
NM_025114.4(CEP290):c.3175del (p.Lys1058_Ile1059insTer) rs62640570
NM_025114.4(CEP290):c.3446_3447del (p.Lys1149fs) rs386834155
NM_025114.4(CEP290):c.381_382delinsT (p.Lys127fs) rs386834156
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_153704.6(TMEM67):c.1065+1del rs386834181
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1336G>C (p.Asp446His) rs386834184
NM_153704.6(TMEM67):c.1413-1G>C rs386834185
NM_153704.6(TMEM67):c.1538_1539del (p.Thr512_Tyr513insTer) rs386834186
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg) rs386834189
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter) rs386834195
NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter) rs386834196
NM_153704.6(TMEM67):c.2561dup (p.Asn854fs) rs386834197
NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs) rs386834198
NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro) rs386834199
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe) rs386834206
NM_153704.6(TMEM67):c.870-2A>G rs386834207

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