ClinVar Miner

List of variants in gene TMEM216 reported as likely benign for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001173990.3(TMEM216):c.51C>T (p.Ser17=) rs548233683 0.00016
NM_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001173990.3(TMEM216):c.276C>T (p.Ser92=) rs758830455 0.00004
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_001173990.3(TMEM216):c.35-19C>T rs934536093 0.00002
NM_001173990.3(TMEM216):c.375C>T (p.Leu125=) rs753317056 0.00002
NM_001173990.3(TMEM216):c.54C>A (p.Thr18=) rs1374118965 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001173990.3(TMEM216):c.114A>G (p.Glu38=) rs1425619800 0.00001
NM_001173990.3(TMEM216):c.136+14G>C rs1397702234 0.00001
NM_001173990.3(TMEM216):c.136+17G>A rs1444099043 0.00001
NM_001173990.3(TMEM216):c.137-11T>C rs746269193 0.00001
NM_001173990.3(TMEM216):c.137-6T>C rs772304194 0.00001
NM_001173990.3(TMEM216):c.165C>T (p.Asn55=) rs1858736498 0.00001
NM_001173990.3(TMEM216):c.192C>T (p.Leu64=) rs1314015576 0.00001
NM_001173990.3(TMEM216):c.220C>T (p.Leu74=) rs190914241 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.34+12G>C rs1336106190 0.00001
NM_001173990.3(TMEM216):c.34+8T>C rs1359736540 0.00001
NM_001173990.3(TMEM216):c.408G>T (p.Val136=) rs911000618 0.00001
NM_001173990.3(TMEM216):c.431+20A>G rs371261722 0.00001
NM_001173990.3(TMEM216):c.69G>C (p.Leu23=) rs1219199960 0.00001
NM_001173990.3(TMEM216):c.84G>C (p.Gly28=) rs1237830618 0.00001
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.108G>A (p.Leu36=)
NM_001173990.3(TMEM216):c.109C>T (p.Leu37=)
NM_001173990.3(TMEM216):c.111G>A (p.Leu37=)
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.132T>C (p.Tyr44=) rs2135190185
NM_001173990.3(TMEM216):c.136+10G>A
NM_001173990.3(TMEM216):c.136+10G>C rs997518388
NM_001173990.3(TMEM216):c.136+10G>T rs997518388
NM_001173990.3(TMEM216):c.136+11C>T
NM_001173990.3(TMEM216):c.136+16G>T
NM_001173990.3(TMEM216):c.136+17G>T
NM_001173990.3(TMEM216):c.136+19T>C
NM_001173990.3(TMEM216):c.136+7A>G rs2135190198
NM_001173990.3(TMEM216):c.136+7_136+10del rs1365805182
NM_001173990.3(TMEM216):c.136+9G>C
NM_001173990.3(TMEM216):c.137-10G>C rs1410739356
NM_001173990.3(TMEM216):c.137-17G>A
NM_001173990.3(TMEM216):c.137-18dup
NM_001173990.3(TMEM216):c.137-8A>G rs2135190973
NM_001173990.3(TMEM216):c.138T>C (p.Gly46=)
NM_001173990.3(TMEM216):c.142C>T (p.Leu48=)
NM_001173990.3(TMEM216):c.147A>G (p.Leu49=) rs2135191066
NM_001173990.3(TMEM216):c.166C>T (p.Leu56=) rs751270974
NM_001173990.3(TMEM216):c.16C>T (p.Leu6=)
NM_001173990.3(TMEM216):c.189C>A (p.Leu63=)
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
NM_001173990.3(TMEM216):c.213A>G (p.Val71=) rs1590642429
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.219C>T (p.Arg73=)
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.229+15G>C
NM_001173990.3(TMEM216):c.229+17G>A
NM_001173990.3(TMEM216):c.229+19A>G
NM_001173990.3(TMEM216):c.230-12T>C
NM_001173990.3(TMEM216):c.230-16G>A
NM_001173990.3(TMEM216):c.230-20C>T
NM_001173990.3(TMEM216):c.240A>G (p.Gly80=)
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.264G>C (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.273T>C (p.Ile91=) rs1301636574
NM_001173990.3(TMEM216):c.279G>A (p.Val93=)
NM_001173990.3(TMEM216):c.27G>T (p.Ala9=) rs2135189216
NM_001173990.3(TMEM216):c.282C>A (p.Ala94=) rs2135196141
NM_001173990.3(TMEM216):c.282C>T (p.Ala94=)
NM_001173990.3(TMEM216):c.312C>T (p.Ser104=) rs748312089
NM_001173990.3(TMEM216):c.322C>T (p.Leu108=) rs1468325310
NM_001173990.3(TMEM216):c.34+10C>G
NM_001173990.3(TMEM216):c.34+10C>T
NM_001173990.3(TMEM216):c.34+11G>A
NM_001173990.3(TMEM216):c.34+11G>T
NM_001173990.3(TMEM216):c.34+12G>A
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692
NM_001173990.3(TMEM216):c.34+7T>A
NM_001173990.3(TMEM216):c.345C>T (p.Arg115=) rs2135196327
NM_001173990.3(TMEM216):c.35-10C>G rs1425807113
NM_001173990.3(TMEM216):c.35-10_35-8dup
NM_001173990.3(TMEM216):c.35-13G>C
NM_001173990.3(TMEM216):c.35-18T>A
NM_001173990.3(TMEM216):c.35-18T>G
NM_001173990.3(TMEM216):c.35-6T>C rs2135189967
NM_001173990.3(TMEM216):c.35-8T>G
NM_001173990.3(TMEM216):c.35-9C>G rs1590641748
NM_001173990.3(TMEM216):c.354C>T (p.Ala118=) rs2135196342
NM_001173990.3(TMEM216):c.36T>A (p.Gly12=)
NM_001173990.3(TMEM216):c.378C>T (p.Phe126=)
NM_001173990.3(TMEM216):c.387C>G (p.Gly129=)
NM_001173990.3(TMEM216):c.411C>T (p.Leu137=)
NM_001173990.3(TMEM216):c.414C>A (p.Thr138=) rs551378370
NM_001173990.3(TMEM216):c.414C>G (p.Thr138=)
NM_001173990.3(TMEM216):c.414C>T (p.Thr138=) rs551378370
NM_001173990.3(TMEM216):c.423T>C (p.Ala141=) rs1363465105
NM_001173990.3(TMEM216):c.431+10C>T
NM_001173990.3(TMEM216):c.431+17A>C
NM_001173990.3(TMEM216):c.431+7C>T rs976039770
NM_001173990.3(TMEM216):c.431+9G>A
NM_001173990.3(TMEM216):c.432-10G>A
NM_001173990.3(TMEM216):c.432-12T>C
NM_001173990.3(TMEM216):c.432-13A>G
NM_001173990.3(TMEM216):c.432-15C>A
NM_001173990.3(TMEM216):c.432-16G>C
NM_001173990.3(TMEM216):c.432-19T>C
NM_001173990.3(TMEM216):c.435T>A (p.Ile145=) rs2135196990
NM_001173990.3(TMEM216):c.43T>C (p.Leu15=)
NM_001173990.3(TMEM216):c.4C>T (p.Leu2=) rs1554972407
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3(TMEM216):c.67C>T (p.Leu23=) rs1346125980
NM_001173990.3(TMEM216):c.69G>A (p.Leu23=)
NM_001173990.3(TMEM216):c.6G>A (p.Leu2=)
NM_001173990.3(TMEM216):c.75T>C (p.Phe25=) rs2135190080
NM_001173990.3(TMEM216):c.76C>T (p.Leu26=)
NM_001173990.3(TMEM216):c.81C>T (p.Asn27=)
NM_001173990.3(TMEM216):c.84G>A (p.Gly28=) rs1237830618

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