ClinVar Miner

List of variants in gene TMEM216 studied for Familial aplasia of the vermis

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Total variants: 213
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HGVS dbSNP gnomAD frequency
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.-2G>T rs7107543 0.08005
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001173990.3(TMEM216):c.51C>T (p.Ser17=) rs548233683 0.00016
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.276C>T (p.Ser92=) rs758830455 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001173990.3(TMEM216):c.230-14G>T rs765197757 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.335A>G (p.Tyr112Cys) rs1170057144 0.00002
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.35-2A>G rs1057517528 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.11G>A (p.Arg4Gln) rs548299486 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.14G>T (p.Gly5Val) rs373854580 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.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.220C>T (p.Leu74=) rs190914241 0.00001
NM_001173990.3(TMEM216):c.228T>C (p.Phe76=) rs1383356739 0.00001
NM_001173990.3(TMEM216):c.257A>G (p.Lys86Arg) rs1414360114 0.00001
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406 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+2T>C rs1057517498 0.00001
NM_001173990.3(TMEM216):c.34+8T>C rs1359736540 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.380T>G (p.Phe127Cys) rs756738481 0.00001
NM_001173990.3(TMEM216):c.406G>A (p.Val136Met) rs75668329 0.00001
NM_001173990.3(TMEM216):c.408G>T (p.Val136=) rs911000618 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 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.87G>A (p.Trp29Ter) rs1304320833 0.00001
NC_000011.10:g.(?_61393874)_(61398286_?)del
NC_000011.9:g.(?_61160094)_(61161458_?)del
NM_001173990.3(TMEM216):c.-24_12del (p.Met1_Arg4del) rs1554972391
NM_001173990.3(TMEM216):c.101A>G (p.Tyr34Cys)
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.118_119del (p.Phe40fs) rs2135190154
NM_001173990.3(TMEM216):c.121A>G (p.Ile41Val) rs1858721272
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+2T>G
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.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.137-2A>C
NM_001173990.3(TMEM216):c.137-2A>G rs1858735439
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>G (p.Leu6Val)
NM_001173990.3(TMEM216):c.16C>T (p.Leu6=)
NM_001173990.3(TMEM216):c.186G>A (p.Met62Ile) rs1858737152
NM_001173990.3(TMEM216):c.189C>A (p.Leu63=)
NM_001173990.3(TMEM216):c.196del (p.Tyr66fs)
NM_001173990.3(TMEM216):c.201T>A (p.Leu67=)
NM_001173990.3(TMEM216):c.203G>T (p.Gly68Val)
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.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.219C>T (p.Arg73=)
NM_001173990.3(TMEM216):c.224T>G (p.Phe75Cys) rs1298138851
NM_001173990.3(TMEM216):c.226T>A (p.Phe76Ile)
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
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.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>T
NM_001173990.3(TMEM216):c.229+5G>A rs1858740729
NM_001173990.3(TMEM216):c.22A>G (p.Met8Val)
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
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.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.236del (p.Lys79fs)
NM_001173990.3(TMEM216):c.240A>G (p.Gly80=)
NM_001173990.3(TMEM216):c.248_249del (p.Cys83fs)
NM_001173990.3(TMEM216):c.249C>A (p.Cys83Ter) rs2135195989
NM_001173990.3(TMEM216):c.250C>T (p.Gln84Ter)
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.259A>G (p.Met87Val)
NM_001173990.3(TMEM216):c.263C>T (p.Pro88Leu) rs565580030
NM_001173990.3(TMEM216):c.264G>C (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.264_265delinsAG (p.Leu89Val) rs1858831429
NM_001173990.3(TMEM216):c.264_265delinsAT (p.Leu89Phe) rs1858831429
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.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.301A>C (p.Met101Leu)
NM_001173990.3(TMEM216):c.312C>T (p.Ser104=) rs748312089
NM_001173990.3(TMEM216):c.322C>A (p.Leu108Met) rs1468325310
NM_001173990.3(TMEM216):c.322C>T (p.Leu108=) rs1468325310
NM_001173990.3(TMEM216):c.328C>T (p.Gln110Ter)
NM_001173990.3(TMEM216):c.337G>A (p.Val113Ile)
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.340C>A (p.Leu114Ile)
NM_001173990.3(TMEM216):c.344G>T (p.Arg115Leu) rs752216307
NM_001173990.3(TMEM216):c.345C>T (p.Arg115=) rs2135196327
NM_001173990.3(TMEM216):c.347T>C (p.Leu116Pro)
NM_001173990.3(TMEM216):c.35-10C>G rs1425807113
NM_001173990.3(TMEM216):c.35-10_35-8dup
NM_001173990.3(TMEM216):c.35-11_35-10delinsAA
NM_001173990.3(TMEM216):c.35-13G>C
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.35-14T>A
NM_001173990.3(TMEM216):c.35-18T>A
NM_001173990.3(TMEM216):c.35-18T>G
NM_001173990.3(TMEM216):c.35-1G>A rs2135189980
NM_001173990.3(TMEM216):c.35-2_35-1insT
NM_001173990.3(TMEM216):c.35-3del
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.360dup (p.Asn121fs)
NM_001173990.3(TMEM216):c.367A>G (p.Ile123Val) rs1202088377
NM_001173990.3(TMEM216):c.36T>A (p.Gly12=)
NM_001173990.3(TMEM216):c.373_374insA (p.Leu125fs) rs2135196385
NM_001173990.3(TMEM216):c.378C>T (p.Phe126=)
NM_001173990.3(TMEM216):c.387C>G (p.Gly129=)
NM_001173990.3(TMEM216):c.40C>G (p.Arg14Gly)
NM_001173990.3(TMEM216):c.410T>C (p.Leu137Pro) rs1351762820
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+5T>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.432-10G>C rs768069891
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.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.432-3C>T
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>G (p.Leu2Val) rs1554972407
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.67del (p.Leu23fs) rs1565088283
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.75del (p.Phe25_Leu26insTer) rs2135190077
NM_001173990.3(TMEM216):c.76C>T (p.Leu26=)
NM_001173990.3(TMEM216):c.77T>A (p.Leu26Gln)
NM_001173990.3(TMEM216):c.77_78insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATCCTGTTCTTTCT (p.Leu26_Asn27insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001173990.3(TMEM216):c.81C>T (p.Asn27=)
NM_001173990.3(TMEM216):c.84G>A (p.Gly28=) rs1237830618
NM_001173990.3(TMEM216):c.91A>G (p.Asn31Asp)

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