ClinVar Miner

List of variants in gene SLC25A46 studied for Neuropathy, hereditary motor and sensory, type 6B

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Total variants: 307
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HGVS dbSNP gnomAD frequency
NM_138773.4(SLC25A46):c.714G>A (p.Glu238=) rs7724788 0.18468
NM_138773.4(SLC25A46):c.346T>C (p.Leu116=) rs17446534 0.06929
NM_138773.4(SLC25A46):c.384+12T>G rs7736017 0.03764
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180 0.03322
NM_138773.4(SLC25A46):c.429C>T (p.Val143=) rs35220834 0.03257
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=) rs145421520 0.02520
NM_138773.4(SLC25A46):c.563+6A>T rs114546039 0.01313
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=) rs151055603 0.00430
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser) rs191332512 0.00357
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met) rs114859074 0.00257
NM_138773.4(SLC25A46):c.563+19C>T rs114954533 0.00203
NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg) rs141213807 0.00193
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) rs149585060 0.00191
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn) rs73230112 0.00170
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665 0.00086
NM_138773.4(SLC25A46):c.385-18G>A rs200817507 0.00065
NM_138773.4(SLC25A46):c.678+17del rs371101588 0.00059
NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr) rs147648476 0.00056
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515 0.00048
NM_138773.4(SLC25A46):c.326+13C>T rs368429622 0.00039
NM_138773.4(SLC25A46):c.733G>A (p.Gly245Arg) rs143029135 0.00021
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=) rs201039547 0.00017
NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val) rs139534651 0.00013
NM_138773.4(SLC25A46):c.283+10A>G rs763772509 0.00013
NM_138773.4(SLC25A46):c.326+15A>G rs372028597 0.00013
NM_138773.4(SLC25A46):c.385-4A>G rs377289513 0.00009
NM_138773.4(SLC25A46):c.276G>C (p.Gln92His) rs776022965 0.00008
NM_138773.4(SLC25A46):c.265G>C (p.Val89Leu) rs777269362 0.00007
NM_138773.4(SLC25A46):c.273G>T (p.Gly91=) rs770228533 0.00005
NM_138773.4(SLC25A46):c.144T>C (p.Asp48=) rs139629514 0.00004
NM_138773.4(SLC25A46):c.203C>T (p.Thr68Ile) rs763466158 0.00004
NM_138773.4(SLC25A46):c.326+6G>A rs1376332022 0.00004
NM_138773.4(SLC25A46):c.679-9T>G rs184715255 0.00004
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_138773.4(SLC25A46):c.1176T>G (p.Val392=) rs140617247 0.00003
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=) rs755840361 0.00003
NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr) rs375056013 0.00003
NM_138773.4(SLC25A46):c.410A>G (p.His137Arg) rs754427464 0.00003
NM_138773.4(SLC25A46):c.458C>A (p.Thr153Asn) rs775286893 0.00003
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg) rs767725140 0.00003
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073 0.00003
NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg) rs150754737 0.00003
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=) rs766154121 0.00003
NM_138773.4(SLC25A46):c.168C>T (p.His56=) rs140606969 0.00002
NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg) rs761045034 0.00002
NM_138773.4(SLC25A46):c.210C>T (p.Ser70=) rs1438784180 0.00002
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys) rs750732884 0.00002
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=) rs200143217 0.00002
NM_138773.4(SLC25A46):c.678+15dup rs762000801 0.00002
NM_138773.4(SLC25A46):c.849G>C (p.Gln283His) rs772739765 0.00002
NM_138773.4(SLC25A46):c.908C>A (p.Thr303Asn) rs754372484 0.00002
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe) rs762881271 0.00002
NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile) rs750717175 0.00002
NM_138773.4(SLC25A46):c.1008A>G (p.Thr336=) rs753034037 0.00001
NM_138773.4(SLC25A46):c.1012T>C (p.Leu338=) rs1427862087 0.00001
NM_138773.4(SLC25A46):c.1019G>A (p.Arg340His) rs1406148342 0.00001
NM_138773.4(SLC25A46):c.1039C>T (p.Arg347Cys) rs1800252146 0.00001
NM_138773.4(SLC25A46):c.1074A>G (p.Glu358=) rs762830379 0.00001
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=) rs768641525 0.00001
NM_138773.4(SLC25A46):c.1198G>A (p.Ala400Thr) rs1800256724 0.00001
NM_138773.4(SLC25A46):c.1218C>A (p.Thr406=) rs530497959 0.00001
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=) rs776771749 0.00001
NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly) rs1167256450 0.00001
NM_138773.4(SLC25A46):c.12G>A (p.Arg4=) rs1443851670 0.00001
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416 0.00001
NM_138773.4(SLC25A46):c.177G>A (p.Glu59=) rs777324317 0.00001
NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala) rs1410055577 0.00001
NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn) rs1295016936 0.00001
NM_138773.4(SLC25A46):c.229A>C (p.Thr77Pro) rs1799549657 0.00001
NM_138773.4(SLC25A46):c.230C>T (p.Thr77Met) rs968966762 0.00001
NM_138773.4(SLC25A46):c.237A>C (p.Glu79Asp) rs1235999169 0.00001
NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala) rs960197684 0.00001
NM_138773.4(SLC25A46):c.261C>A (p.Gly87=) rs955762085 0.00001
NM_138773.4(SLC25A46):c.26T>C (p.Phe9Ser) rs1561595610 0.00001
NM_138773.4(SLC25A46):c.283+13G>A rs1445933845 0.00001
NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe) rs768960064 0.00001
NM_138773.4(SLC25A46):c.315T>G (p.Ile105Met) rs761386224 0.00001
NM_138773.4(SLC25A46):c.323C>T (p.Ala108Val) rs1400743911 0.00001
NM_138773.4(SLC25A46):c.326+20C>T rs751750749 0.00001
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His) rs756258729 0.00001
NM_138773.4(SLC25A46):c.384+7G>A rs760742549 0.00001
NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile) rs766440921 0.00001
NM_138773.4(SLC25A46):c.426A>T (p.Thr142=) rs758691521 0.00001
NM_138773.4(SLC25A46):c.436A>G (p.Ile146Val) rs770525652 0.00001
NM_138773.4(SLC25A46):c.43C>T (p.Arg15Trp) rs369936836 0.00001
NM_138773.4(SLC25A46):c.55C>A (p.Arg19=) rs1186440654 0.00001
NM_138773.4(SLC25A46):c.564-15A>G rs1394762178 0.00001
NM_138773.4(SLC25A46):c.569T>C (p.Val190Ala) rs372083789 0.00001
NM_138773.4(SLC25A46):c.626C>T (p.Thr209Ile) rs752217990 0.00001
NM_138773.4(SLC25A46):c.632T>C (p.Val211Ala) rs756983101 0.00001
NM_138773.4(SLC25A46):c.634G>T (p.Val212Leu) rs543911130 0.00001
NM_138773.4(SLC25A46):c.661C>A (p.Leu221Met) rs141365604 0.00001
NM_138773.4(SLC25A46):c.679-12T>C rs1329331980 0.00001
NM_138773.4(SLC25A46):c.679-7A>G rs775146466 0.00001
NM_138773.4(SLC25A46):c.711G>A (p.Leu237=) rs1411625237 0.00001
NM_138773.4(SLC25A46):c.740T>C (p.Val247Ala) rs1308587017 0.00001
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705 0.00001
NM_138773.4(SLC25A46):c.804G>A (p.Thr268=) rs757342761 0.00001
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=) rs1323118441 0.00001
NM_138773.4(SLC25A46):c.829A>C (p.Ile277Leu) rs747810302 0.00001
NM_138773.4(SLC25A46):c.84C>T (p.Phe28=) rs1460019948 0.00001
NM_138773.4(SLC25A46):c.884A>C (p.Tyr295Ser) rs765131039 0.00001
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser) rs201789237 0.00001
NM_138773.4(SLC25A46):c.930G>T (p.Leu310Phe) rs746484775 0.00001
NC_000005.10:g.(?_110743720)_(110743797_?)del
NC_000005.9:g.(?_110074801)_(110151791_?)del
NC_000005.9:g.(?_110074821)_(110097482_?)del
NC_000005.9:g.(?_110074821)_110097482del
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000005.9:g.(?_110096884)_(110097482_?)dup
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly) rs1580850073
NM_138773.4(SLC25A46):c.1015C>T (p.His339Tyr) rs777283215
NM_138773.4(SLC25A46):c.1019G>C (p.Arg340Pro) rs1406148342
NM_138773.4(SLC25A46):c.1036A>G (p.Thr346Ala) rs1561610023
NM_138773.4(SLC25A46):c.1042A>T (p.Thr348Ser)
NM_138773.4(SLC25A46):c.1045A>G (p.Ile349Val) rs1800252268
NM_138773.4(SLC25A46):c.105C>T (p.Thr35=) rs1295091261
NM_138773.4(SLC25A46):c.106G>A (p.Gly36Arg) rs761259380
NM_138773.4(SLC25A46):c.106G>C (p.Gly36Arg)
NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys) rs1229680117
NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln) rs977278982
NM_138773.4(SLC25A46):c.1078_1087dup (p.Asn363delinsThrSerAsnTer) rs1561610094
NM_138773.4(SLC25A46):c.1092A>C (p.Thr364=) rs1800253655
NM_138773.4(SLC25A46):c.1107G>A (p.Met369Ile) rs1019423413
NM_138773.4(SLC25A46):c.1113C>G (p.Asp371Glu)
NM_138773.4(SLC25A46):c.1125C>T (p.Thr375=) rs2150419387
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1134G>C (p.Gln378His) rs1164068029
NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln) rs370880304
NM_138773.4(SLC25A46):c.1152T>C (p.Gly384=) rs2150419425
NM_138773.4(SLC25A46):c.115C>T (p.Leu39=)
NM_138773.4(SLC25A46):c.116T>C (p.Leu39Pro) rs2150404217
NM_138773.4(SLC25A46):c.1180A>G (p.Ile394Val)
NM_138773.4(SLC25A46):c.1190C>G (p.Thr397Arg) rs1342717502
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs) rs1064795772
NM_138773.4(SLC25A46):c.1200A>G (p.Ala400=) rs2150419453
NM_138773.4(SLC25A46):c.1203T>C (p.Ala401=) rs1580871216
NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val) rs1561610274
NM_138773.4(SLC25A46):c.1231T>C (p.Ser411Pro)
NM_138773.4(SLC25A46):c.1234A>G (p.Thr412Ala)
NM_138773.4(SLC25A46):c.123C>T (p.His41=)
NM_138773.4(SLC25A46):c.1247A>C (p.Asn416Thr) rs2150419511
NM_138773.4(SLC25A46):c.1250A>G (p.Asn417Ser)
NM_138773.4(SLC25A46):c.1254T>C (p.Ile418=)
NM_138773.4(SLC25A46):c.1256G>C (p.Ter419Ser) rs1365339601
NM_138773.4(SLC25A46):c.1257A>G (p.Ter419Trp) rs1800259229
NM_138773.4(SLC25A46):c.127G>A (p.Val43Met)
NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile) rs1554091122
NM_138773.4(SLC25A46):c.135T>C (p.Thr45=)
NM_138773.4(SLC25A46):c.13C>A (p.Arg5Ser) rs778529430
NM_138773.4(SLC25A46):c.146T>C (p.Ile49Thr)
NM_138773.4(SLC25A46):c.147C>A (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.14G>T (p.Arg5Leu) rs1272997827
NM_138773.4(SLC25A46):c.158G>T (p.Arg53Leu) rs867841573
NM_138773.4(SLC25A46):c.160A>C (p.Asn54His)
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs) rs1799544883
NM_138773.4(SLC25A46):c.186G>T (p.Pro62=)
NM_138773.4(SLC25A46):c.18G>T (p.Pro6=)
NM_138773.4(SLC25A46):c.193_201dup (p.Gly65_Pro67dup) rs2150404461
NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu) rs758140632
NM_138773.4(SLC25A46):c.198G>T (p.Val66=) rs761232447
NM_138773.4(SLC25A46):c.203C>G (p.Thr68Ser) rs763466158
NM_138773.4(SLC25A46):c.209C>G (p.Ser70Cys) rs904962071
NM_138773.4(SLC25A46):c.211A>G (p.Thr71Ala)
NM_138773.4(SLC25A46):c.239C>A (p.Pro80His) rs773343482
NM_138773.4(SLC25A46):c.241T>C (p.Phe81Leu) rs747086911
NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly) rs892374338
NM_138773.4(SLC25A46):c.273del (p.Gln92fs) rs1022269942
NM_138773.4(SLC25A46):c.283+15G>A
NM_138773.4(SLC25A46):c.283+17C>T
NM_138773.4(SLC25A46):c.283+9C>G
NM_138773.4(SLC25A46):c.284-11T>C rs2150408031
NM_138773.4(SLC25A46):c.284-16T>C
NM_138773.4(SLC25A46):c.284-3T>C rs770457308
NM_138773.4(SLC25A46):c.284-8dup rs559871816
NM_138773.4(SLC25A46):c.288G>A (p.Gln96=) rs2150408040
NM_138773.4(SLC25A46):c.303T>C (p.Ala101=)
NM_138773.4(SLC25A46):c.304G>T (p.Gly102Ter)
NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val) rs768960064
NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr) rs766964934
NM_138773.4(SLC25A46):c.326+11A>G rs760216361
NM_138773.4(SLC25A46):c.327-19A>C
NM_138773.4(SLC25A46):c.327-2A>C
NM_138773.4(SLC25A46):c.32G>A (p.Gly11Asp) rs1187287545
NM_138773.4(SLC25A46):c.354T>A (p.His118Gln)
NM_138773.4(SLC25A46):c.354T>C (p.His118=) rs748251446
NM_138773.4(SLC25A46):c.356C>T (p.Pro119Leu) rs2150408930
NM_138773.4(SLC25A46):c.358T>C (p.Cys120Arg) rs1799746442
NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe) rs772344091
NM_138773.4(SLC25A46):c.361A>G (p.Ile121Val)
NM_138773.4(SLC25A46):c.384+4A>C rs755470887
NM_138773.4(SLC25A46):c.385-15A>G rs2150410313
NM_138773.4(SLC25A46):c.385-2A>T rs1799815535
NM_138773.4(SLC25A46):c.389A>C (p.Asn130Thr) rs1007822688
NM_138773.4(SLC25A46):c.398C>T (p.Ala133Val)
NM_138773.4(SLC25A46):c.3G>A (p.Met1Ile) rs1799527654
NM_138773.4(SLC25A46):c.402G>C (p.Gln134His) rs1799816585
NM_138773.4(SLC25A46):c.407A>G (p.Tyr136Cys) rs1799816715
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.426A>C (p.Thr142=) rs758691521
NM_138773.4(SLC25A46):c.426A>G (p.Thr142=)
NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile) rs1554092069
NM_138773.4(SLC25A46):c.42C>T (p.Tyr14=)
NM_138773.4(SLC25A46):c.435T>C (p.Asn145=)
NM_138773.4(SLC25A46):c.439A>G (p.Met147Val)
NM_138773.4(SLC25A46):c.444C>T (p.Tyr148=)
NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln) rs372382932
NM_138773.4(SLC25A46):c.462+10T>C rs1580858938
NM_138773.4(SLC25A46):c.462+12G>T
NM_138773.4(SLC25A46):c.462+1G>A rs1799819389
NM_138773.4(SLC25A46):c.462+2T>C
NM_138773.4(SLC25A46):c.463-3del rs769567758
NM_138773.4(SLC25A46):c.468T>C (p.Pro156=) rs2150411201
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys) rs770562376
NM_138773.4(SLC25A46):c.470G>C (p.Arg157Thr)
NM_138773.4(SLC25A46):c.479G>C (p.Trp160Ser)
NM_138773.4(SLC25A46):c.47del (p.Gly16fs) rs1580849841
NM_138773.4(SLC25A46):c.489G>C (p.Met163Ile)
NM_138773.4(SLC25A46):c.48T>C (p.Gly16=) rs2150404063
NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp) rs1561595689
NM_138773.4(SLC25A46):c.54C>T (p.Ala18=)
NM_138773.4(SLC25A46):c.563+19C>A
NM_138773.4(SLC25A46):c.563+4C>A rs999030471
NM_138773.4(SLC25A46):c.563+7T>C
NM_138773.4(SLC25A46):c.56G>T (p.Arg19Leu)
NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn) rs1580866176
NM_138773.4(SLC25A46):c.597A>G (p.Ile199Met) rs924688251
NM_138773.4(SLC25A46):c.598_599dup (p.His202fs)
NM_138773.4(SLC25A46):c.59A>T (p.Asp20Val) rs1799533031
NM_138773.4(SLC25A46):c.601G>C (p.Glu201Gln) rs1390370205
NM_138773.4(SLC25A46):c.618del (p.Lys206fs) rs1371249361
NM_138773.4(SLC25A46):c.61G>A (p.Glu21Lys)
NM_138773.4(SLC25A46):c.620+15A>G
NM_138773.4(SLC25A46):c.620+18G>A
NM_138773.4(SLC25A46):c.620+19C>T
NM_138773.4(SLC25A46):c.620+1G>A
NM_138773.4(SLC25A46):c.620+2dup rs1409708415
NM_138773.4(SLC25A46):c.620+4_620+7del rs1580866253
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr) rs766116322
NM_138773.4(SLC25A46):c.621-13T>C
NM_138773.4(SLC25A46):c.621-16G>A
NM_138773.4(SLC25A46):c.621-17T>G
NM_138773.4(SLC25A46):c.621-5T>C
NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp) rs1561595734
NM_138773.4(SLC25A46):c.640A>G (p.Met214Val)
NM_138773.4(SLC25A46):c.665T>C (p.Ile222Thr)
NM_138773.4(SLC25A46):c.670A>G (p.Thr224Ala)
NM_138773.4(SLC25A46):c.678+10T>C rs760016782
NM_138773.4(SLC25A46):c.678+10T>G
NM_138773.4(SLC25A46):c.678+14del
NM_138773.4(SLC25A46):c.678+14dup rs539229853
NM_138773.4(SLC25A46):c.678+20C>T
NM_138773.4(SLC25A46):c.678+3G>A rs1580867186
NM_138773.4(SLC25A46):c.679-16A>G
NM_138773.4(SLC25A46):c.679-17C>T rs1392231722
NM_138773.4(SLC25A46):c.679-1G>A rs1800238919
NM_138773.4(SLC25A46):c.679-8dup rs751152278
NM_138773.4(SLC25A46):c.699T>A (p.Asn233Lys)
NM_138773.4(SLC25A46):c.702T>C (p.Thr234=) rs1183572047
NM_138773.4(SLC25A46):c.709T>C (p.Leu237=)
NM_138773.4(SLC25A46):c.717T>C (p.Cys239=)
NM_138773.4(SLC25A46):c.722A>C (p.Lys241Thr) rs2150419004
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.741G>A (p.Val247=) rs1800241437
NM_138773.4(SLC25A46):c.75C>A (p.Gly25=)
NM_138773.4(SLC25A46):c.762T>C (p.His254=)
NM_138773.4(SLC25A46):c.764G>C (p.Ser255Thr)
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_138773.4(SLC25A46):c.780G>T (p.Pro260=) rs766154121
NM_138773.4(SLC25A46):c.78C>T (p.Gly26=) rs2150404110
NM_138773.4(SLC25A46):c.798C>A (p.Phe266Leu) rs1800243883
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs) rs1800243948
NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met) rs751900293
NM_138773.4(SLC25A46):c.813T>C (p.His271=)
NM_138773.4(SLC25A46):c.816A>T (p.Gly272=)
NM_138773.4(SLC25A46):c.848A>C (p.Gln283Pro) rs2150419144
NM_138773.4(SLC25A46):c.84C>G (p.Phe28Leu) rs1460019948
NM_138773.4(SLC25A46):c.859C>T (p.Leu287=)
NM_138773.4(SLC25A46):c.864_866dup (p.Ile289dup) rs1800246194
NM_138773.4(SLC25A46):c.870A>C (p.Leu290=) rs372999666
NM_138773.4(SLC25A46):c.870A>G (p.Leu290=)
NM_138773.4(SLC25A46):c.878A>T (p.Lys293Met) rs1800246681
NM_138773.4(SLC25A46):c.879G>C (p.Lys293Asn) rs1800246744
NM_138773.4(SLC25A46):c.892C>T (p.His298Tyr)
NM_138773.4(SLC25A46):c.903G>C (p.Glu301Asp) rs2150419215
NM_138773.4(SLC25A46):c.927G>T (p.Met309Ile) rs777447707
NM_138773.4(SLC25A46):c.928T>C (p.Leu310=) rs1800248230
NM_138773.4(SLC25A46):c.92G>A (p.Arg31Lys)
NM_138773.4(SLC25A46):c.931G>A (p.Asp311Asn) rs894545180
NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del) rs374899270
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_138773.4(SLC25A46):c.939T>C (p.Tyr313=) rs1188835273
NM_138773.4(SLC25A46):c.93G>C (p.Arg31Ser) rs2150404149
NM_138773.4(SLC25A46):c.945A>C (p.Pro315=)
NM_138773.4(SLC25A46):c.946G>A (p.Glu316Lys) rs2150419254
NM_138773.4(SLC25A46):c.953T>C (p.Ile318Thr) rs201858314
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) rs1390567933
NM_138773.4(SLC25A46):c.960C>A (p.Asn320Lys) rs1800249439
NM_138773.4(SLC25A46):c.965C>G (p.Ala322Gly)
NM_138773.4(SLC25A46):c.96C>T (p.Ser32=)
NM_138773.4(SLC25A46):c.984C>T (p.Asp328=)
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro) rs1580870952
NM_138773.4(SLC25A46):c.996C>G (p.Tyr332Ter) rs530045841
NM_138773.4(SLC25A46):c.999A>G (p.Pro333=)
NM_138773.4(SLC25A46):c.9G>A (p.Pro3=)
NM_138773.4(SLC25A46):c.9GCG[1] (p.Arg5del) rs2150403955

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