ClinVar Miner

List of variants studied for Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance

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ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_213720.3(CHCHD10):c.268A>C (p.Thr90Pro) rs767301039 0.05840
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr) rs111677724 0.05316
NM_213720.3(CHCHD10):c.42-7C>G rs567239313 0.01558
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) rs111527940 0.00755
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) rs200831077 0.00420
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=) rs138183274 0.00227
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00143
NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) rs370872556 0.00115
NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) rs145649831 0.00028
NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) rs564997204 0.00027
NM_213720.3(CHCHD10):c.409+1G>A rs367684804 0.00025
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_213720.3(CHCHD10):c.378C>T (p.Ser126=) rs199579266 0.00011
NM_213720.3(CHCHD10):c.410-12C>T rs750841860 0.00011
NM_213720.3(CHCHD10):c.410-17T>G rs754306778 0.00010
NM_213720.3(CHCHD10):c.410-19G>C rs754492535 0.00010
NM_213720.3(CHCHD10):c.410-14C>T rs375779737 0.00009
NM_213720.3(CHCHD10):c.42-9C>A rs1392906115 0.00009
NM_213720.3(CHCHD10):c.171G>A (p.Val57=) rs780298646 0.00007
NM_213720.3(CHCHD10):c.357G>T (p.Leu119=) rs377740688 0.00007
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) rs374353973 0.00006
NM_213720.3(CHCHD10):c.132C>T (p.Leu44=) rs776304054 0.00005
NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) rs773772416 0.00005
NM_213720.3(CHCHD10):c.409+18G>A rs374368575 0.00005
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) rs371437007 0.00004
NM_213720.3(CHCHD10):c.156C>T (p.Ala52=) rs772696163 0.00003
NM_213720.3(CHCHD10):c.262-4C>T rs1021130344 0.00003
NM_213720.3(CHCHD10):c.262-5C>T rs750056280 0.00003
NM_213720.3(CHCHD10):c.262-7C>T rs533095236 0.00003
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155 0.00003
NM_213720.3(CHCHD10):c.409+15C>G rs757131008 0.00003
NM_213720.3(CHCHD10):c.412C>T (p.Leu138=) rs1397004301 0.00003
NM_213720.3(CHCHD10):c.42-2A>G rs1354578196 0.00003
NM_213720.3(CHCHD10):c.134T>A (p.Met45Lys) rs770541978 0.00002
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) rs1287389347 0.00002
NM_213720.3(CHCHD10):c.153G>T (p.Thr51=) rs772927642 0.00002
NM_213720.3(CHCHD10):c.262-11T>A rs1293883249 0.00002
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro) rs889489701 0.00002
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) rs766426370 0.00002
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr) rs762943183 0.00001
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser) rs1259379217 0.00001
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg) rs945463572 0.00001
NM_213720.3(CHCHD10):c.162G>T (p.Gly54=) rs749635935 0.00001
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) rs751472303 0.00001
NM_213720.3(CHCHD10):c.189C>T (p.His63=) rs202148090 0.00001
NM_213720.3(CHCHD10):c.192C>T (p.Val64=) rs1392838932 0.00001
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) rs542541060 0.00001
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val) rs766054125 0.00001
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn) rs1334073322 0.00001
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter) rs770043821 0.00001
NM_213720.3(CHCHD10):c.261+9C>A rs746028073 0.00001
NM_213720.3(CHCHD10):c.262-18C>T rs1389766646 0.00001
NM_213720.3(CHCHD10):c.262-3C>G rs867521564 0.00001
NM_213720.3(CHCHD10):c.306C>T (p.Cys102=) rs527737360 0.00001
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) rs780959799 0.00001
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg) rs763453989 0.00001
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe) rs1358742335 0.00001
NM_213720.3(CHCHD10):c.372C>T (p.Gly124=) rs372902325 0.00001
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys) rs765753241 0.00001
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg) rs2145924084 0.00001
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs) rs1397138322 0.00001
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter) rs1441366419 0.00001
NM_213720.3(CHCHD10):c.408T>C (p.His136=) rs113677828 0.00001
NM_213720.3(CHCHD10):c.409+11G>A rs745652443 0.00001
NM_213720.3(CHCHD10):c.41+9G>A rs971048650 0.00001
NM_213720.3(CHCHD10):c.410-13C>T rs756412971 0.00001
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) rs1197865297 0.00001
NM_213720.3(CHCHD10):c.42-8C>T rs1191330602 0.00001
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys) rs730880032 0.00001
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val) rs1244878740 0.00001
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser) rs1297070374 0.00001
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24108194)_(24108482_?)del
NC_000022.10:g.(?_24108194)_(24110061_?)del
NC_000022.10:g.(?_24108194)_(24110061_?)dup
NC_000022.10:g.(?_24109541)_(24110061_?)del
NC_000022.10:g.(?_24109541)_(24110081_?)del
NC_000022.11:g.(?_23765824)_(23767603_?)del
NC_000022.11:g.(?_23767364)_(23767982_?)del
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu) rs2517622760
NM_213720.3(CHCHD10):c.104C>A (p.Ala35Asp)
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr) rs752472094
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu) rs1569151061
NM_213720.3(CHCHD10):c.119G>T (p.Gly40Val)
NM_213720.3(CHCHD10):c.11del (p.Gly4fs)
NM_213720.3(CHCHD10):c.129G>A (p.Gly43=) rs1207515708
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp) rs1453309063
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val) rs888466594
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser) rs1356934777
NM_213720.3(CHCHD10):c.159A>G (p.Ala53=) rs748608906
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu) rs775004786
NM_213720.3(CHCHD10):c.168C>G (p.Ala56=) rs13053635
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser) rs751472303
NM_213720.3(CHCHD10):c.181G>A (p.Val61Met)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) rs781304084
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) rs730880031
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) rs1926926045
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) rs1926925550
NM_213720.3(CHCHD10):c.207G>A (p.Leu69=) rs754782836
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg) rs2145926804
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) rs542541060
NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) rs984321947
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) rs767069606
NM_213720.3(CHCHD10):c.228G>T (p.Gly76=) rs761442567
NM_213720.3(CHCHD10):c.231C>T (p.Ser77=) rs2517621915
NM_213720.3(CHCHD10):c.234G>C (p.Ser78=) rs111527940
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) rs1555925855
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro) rs1926919863
NM_213720.3(CHCHD10):c.24G>A (p.Ala8=) rs1926992574
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro) rs2517621821
NM_213720.3(CHCHD10):c.261+10G>C rs781393947
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG rs2517621695
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC rs2517621678
NM_213720.3(CHCHD10):c.261+17A>G rs754940184
NM_213720.3(CHCHD10):c.261+7A>G rs2145926622
NM_213720.3(CHCHD10):c.262-13A>G
NM_213720.3(CHCHD10):c.262-14C>T rs1419450340
NM_213720.3(CHCHD10):c.262-4C>G rs1021130344
NM_213720.3(CHCHD10):c.262-7C>A
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) rs1926806684
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) rs564469294
NM_213720.3(CHCHD10):c.267C>T (p.Pro89=) rs1926804314
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=) rs773772416
NM_213720.3(CHCHD10):c.274del (p.Ala92fs) rs2517618074
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter) rs1926798746
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg) rs1348340557
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) rs1926995828
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) rs776781535
NM_213720.3(CHCHD10):c.306C>G (p.Cys102Trp)
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr) rs562212051
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val) rs2145924358
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys) rs1365346071
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) rs951686050
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys) rs1181028283
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter) rs1181028283
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn) rs1198199679
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) rs750293377
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg) rs964013488
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn) rs1926782349
NM_213720.3(CHCHD10):c.354C>T (p.Asp118=) rs780959799
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe) rs1287419144
NM_213720.3(CHCHD10):c.361C>T (p.Leu121=) rs2517617345
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) rs1601354726
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr) rs1926990501
NM_213720.3(CHCHD10):c.384C>T (p.Ala128=)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val) rs1926990244
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr) rs2517617183
NM_213720.3(CHCHD10):c.409+11G>C rs745652443
NM_213720.3(CHCHD10):c.409+17C>T rs757795476
NM_213720.3(CHCHD10):c.41+17G>A rs1233906355
NM_213720.3(CHCHD10):c.41+8G>A
NM_213720.3(CHCHD10):c.41+8G>T
NM_213720.3(CHCHD10):c.410-10C>T
NM_213720.3(CHCHD10):c.410-15C>G rs1449367210
NM_213720.3(CHCHD10):c.410-3C>G rs767630947
NM_213720.3(CHCHD10):c.410-3C>T rs767630947
NM_213720.3(CHCHD10):c.410-8del rs759453467
NM_213720.3(CHCHD10):c.42-10A>G rs779478955
NM_213720.3(CHCHD10):c.42-15C>T rs2517623419
NM_213720.3(CHCHD10):c.42-18T>C rs2517623437
NM_213720.3(CHCHD10):c.42-4G>T rs754027063
NM_213720.3(CHCHD10):c.42-5C>G rs868345557
NM_213720.3(CHCHD10):c.42-5C>T rs868345557
NM_213720.3(CHCHD10):c.42-5del rs1926955562
NM_213720.3(CHCHD10):c.42-6C>G rs958389013
NM_213720.3(CHCHD10):c.42-9C>T rs1392906115
NM_213720.3(CHCHD10):c.421C>T (p.Leu141=)
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu) rs2145927350
NM_213720.3(CHCHD10):c.48A>T (p.Pro16=) rs179468
NM_213720.3(CHCHD10):c.54G>A (p.Ala18=) rs1344583612
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.57C>T (p.Pro19=) rs1381948310
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr) rs950020917
NM_213720.3(CHCHD10):c.69G>A (p.Pro23=)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.72C>A (p.Pro24=)
NM_213720.3(CHCHD10):c.75G>A (p.Ala25=) rs1926946221
NM_213720.3(CHCHD10):c.75G>C (p.Ala25=) rs1926946221
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn) rs967231769
NM_213720.3(CHCHD10):c.77A>G (p.His26Arg)
NM_213720.3(CHCHD10):c.84G>T (p.Pro28=) rs2517622934
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu) rs2517622921
NM_213720.3(CHCHD10):c.89C>G (p.Ser30Trp)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.92C>T (p.Ala31Val) rs2517622862
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro) rs2145927177
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser) rs2145927177
NM_213720.3(CHCHD10):c.9G>A (p.Arg3=) rs1165025561

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