ClinVar Miner

List of variants reported as benign for Meckel syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_024809.5(TCTN2):c.*155G>A rs12811354 0.31018
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_024809.5(TCTN2):c.-95G>A rs7980060 0.02722
NM_015681.6(B9D1):c.-70G>A rs2296978 0.02165
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_015681.6(B9D1):c.-110G>A rs117169107 0.00495
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_153240.5(NPHP3):c.3125+7dup rs11396595

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