ClinVar Miner

List of variants studied for hereditary motor and sensory neuropathy, Okinawa type by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 316
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006070.6(TFG):c.846T>C (p.Pro282=) rs11353 0.66628
NM_006070.6(TFG):c.722-8G>T rs41272979 0.02999
NM_006070.6(TFG):c.416-9T>C rs115896544 0.01708
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338 0.01477
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279 0.01123
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729 0.00603
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054 0.00476
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562 0.00417
NM_006070.6(TFG):c.184+11T>C rs200924045 0.00255
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 0.00119
NM_006070.6(TFG):c.415+7C>G rs149927288 0.00116
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_006070.6(TFG):c.457T>G (p.Ser153Ala) rs140466338 0.00051
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282 0.00021
NM_006070.6(TFG):c.234T>A (p.Ile78=) rs147546544 0.00018
NM_006070.6(TFG):c.849A>G (p.Gln283=) rs148835012 0.00017
NM_006070.6(TFG):c.256C>G (p.Leu86Val) rs140174542 0.00011
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr) rs780219953 0.00011
NM_006070.6(TFG):c.672A>G (p.Pro224=) rs141412018 0.00011
NM_006070.6(TFG):c.185-9A>T rs778438842 0.00008
NM_006070.6(TFG):c.581-6A>C rs369615915 0.00007
NM_006070.6(TFG):c.1087T>G (p.Phe363Val) rs758939134 0.00006
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005 0.00006
NM_006070.6(TFG):c.1147C>T (p.Arg383Cys) rs146078119 0.00006
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547 0.00006
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115 0.00006
NM_006070.6(TFG):c.1079G>A (p.Arg360Lys) rs753259754 0.00005
NM_006070.6(TFG):c.557G>A (p.Gly186Asp) rs369981362 0.00005
NM_006070.6(TFG):c.716T>C (p.Ile239Thr) rs146004809 0.00005
NM_006070.6(TFG):c.1002T>G (p.Ser334=) rs761683764 0.00004
NM_006070.6(TFG):c.1146G>A (p.Ala382=) rs761808737 0.00004
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090 0.00004
NM_006070.6(TFG):c.753C>T (p.Ala251=) rs561791332 0.00004
NM_006070.6(TFG):c.820+3G>A rs367852812 0.00004
NM_006070.6(TFG):c.996A>G (p.Gln332=) rs774298210 0.00004
NM_006070.6(TFG):c.1154G>A (p.Arg385His) rs373719892 0.00003
NM_006070.6(TFG):c.171G>A (p.Lys57=) rs201326908 0.00003
NM_006070.6(TFG):c.177A>G (p.Lys59=) rs766483726 0.00003
NM_006070.6(TFG):c.337C>A (p.Arg113=) rs764959531 0.00003
NM_006070.6(TFG):c.438A>G (p.Glu146=) rs1258206651 0.00003
NM_006070.6(TFG):c.882A>C (p.Gln294His) rs751393611 0.00003
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) rs543542721 0.00002
NM_006070.6(TFG):c.1172G>T (p.Gly391Val) rs1214775332 0.00002
NM_006070.6(TFG):c.225C>G (p.Ser75=) rs747353898 0.00002
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266 0.00002
NM_006070.6(TFG):c.401A>G (p.Asn134Ser) rs768746409 0.00002
NM_006070.6(TFG):c.464A>G (p.Lys155Arg) rs966574827 0.00002
NM_006070.6(TFG):c.544A>C (p.Met182Leu) rs755242228 0.00002
NM_006070.6(TFG):c.64C>T (p.Arg22Trp) rs989357227 0.00002
NM_006070.6(TFG):c.738G>C (p.Gln246His) rs370273888 0.00002
NM_006070.6(TFG):c.771G>A (p.Gln257=) rs374006808 0.00002
NM_006070.6(TFG):c.828T>C (p.Tyr276=) rs372641906 0.00002
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149 0.00001
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436 0.00001
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441 0.00001
NM_006070.6(TFG):c.1116C>T (p.Thr372=) rs1576389880 0.00001
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129 0.00001
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys) rs548772203 0.00001
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg) rs1576390105 0.00001
NM_006070.6(TFG):c.213T>C (p.Ser71=) rs773769795 0.00001
NM_006070.6(TFG):c.25G>A (p.Gly9Arg) rs200716443 0.00001
NM_006070.6(TFG):c.268+18T>A rs767431238 0.00001
NM_006070.6(TFG):c.268+20A>T rs755835566 0.00001
NM_006070.6(TFG):c.268G>A (p.Val90Ile) rs1468380372 0.00001
NM_006070.6(TFG):c.269-5T>C rs2095082752 0.00001
NM_006070.6(TFG):c.286C>T (p.Pro96Ser) rs1435777080 0.00001
NM_006070.6(TFG):c.293A>C (p.Glu98Ala) rs2095082870 0.00001
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900 0.00001
NM_006070.6(TFG):c.310T>C (p.Tyr104His) rs775608477 0.00001
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006070.6(TFG):c.409G>C (p.Glu137Gln) rs760595911 0.00001
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552 0.00001
NM_006070.6(TFG):c.474T>C (p.Thr158=) rs2095094645 0.00001
NM_006070.6(TFG):c.482T>C (p.Met161Thr) rs766899074 0.00001
NM_006070.6(TFG):c.484G>A (p.Ala162Thr) rs1346466403 0.00001
NM_006070.6(TFG):c.499G>A (p.Ala167Thr) rs1428468084 0.00001
NM_006070.6(TFG):c.550G>A (p.Ala184Thr) rs777654574 0.00001
NM_006070.6(TFG):c.580+6T>C rs372196251 0.00001
NM_006070.6(TFG):c.581-10G>A rs749200284 0.00001
NM_006070.6(TFG):c.608G>A (p.Arg203His) rs879472420 0.00001
NM_006070.6(TFG):c.621C>T (p.Pro207=) rs141786985 0.00001
NM_006070.6(TFG):c.664G>A (p.Val222Ile) rs144368144 0.00001
NM_006070.6(TFG):c.690A>G (p.Thr230=) rs777434458 0.00001
NM_006070.6(TFG):c.6C>T (p.Asn2=) rs771836549 0.00001
NM_006070.6(TFG):c.705A>G (p.Gln235=) rs372286781 0.00001
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697 0.00001
NM_006070.6(TFG):c.756C>G (p.Gly252=) rs867600144 0.00001
NM_006070.6(TFG):c.765A>C (p.Ala255=) rs1057522690 0.00001
NM_006070.6(TFG):c.773C>T (p.Pro258Leu) rs752762145 0.00001
NM_006070.6(TFG):c.821C>T (p.Ala274Val) rs368994316 0.00001
NM_006070.6(TFG):c.850C>G (p.Gln284Glu) rs760894126 0.00001
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965 0.00001
NM_006070.6(TFG):c.867G>A (p.Gln289=) rs1340191664 0.00001
NM_006070.6(TFG):c.981A>G (p.Gln327=) rs759578675 0.00001
NC_000003.11:g.(?_100432510)_(100438922_?)dup
NC_000003.11:g.(?_100432520)_(100438912_?)dup
NC_000003.11:g.(?_100432530)_(100432733_?)dup
NC_000003.11:g.(?_100432530)_(100438902_?)dup
NC_000003.11:g.(?_100432530)_(100438912_?)dup
NC_000003.11:g.(?_100432530)_(100438922_?)dup
NC_000003.11:g.(?_100432530)_(100467375_?)del
NC_000003.11:g.(?_100455410)_(100463785_?)del
NC_000003.11:g.(?_100463667)_(100467385_?)dup
NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)
NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)
NM_006070.6(TFG):c.101A>T (p.Asp34Val)
NM_006070.6(TFG):c.1027C>G (p.Pro343Ala) rs750232252
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1051C>T (p.Pro351Ser) rs2149106556
NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)
NM_006070.6(TFG):c.1097T>A (p.Leu366His)
NM_006070.6(TFG):c.1111A>G (p.Met371Val) rs2095155960
NM_006070.6(TFG):c.1113G>A (p.Met371Ile)
NM_006070.6(TFG):c.1118dup (p.Pro374fs)
NM_006070.6(TFG):c.1120C>T (p.Pro374Ser) rs781504257
NM_006070.6(TFG):c.1123C>T (p.Pro375Ser)
NM_006070.6(TFG):c.1131G>A (p.Gly377=)
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu) rs2095156171
NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1163T>G (p.Phe388Cys) rs2149106914
NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)
NM_006070.6(TFG):c.1176T>C (p.Tyr392=) rs1197524442
NM_006070.6(TFG):c.1178C>A (p.Thr393Asn)
NM_006070.6(TFG):c.1179C>T (p.Thr393=) rs764626833
NM_006070.6(TFG):c.1182A>G (p.Gln394=)
NM_006070.6(TFG):c.1185T>C (p.Pro395=) rs1185375387
NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln) rs963151000
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro) rs963151000
NM_006070.6(TFG):c.1202A>G (p.Ter401=)
NM_006070.6(TFG):c.133A>C (p.Arg45=)
NM_006070.6(TFG):c.160G>A (p.Val54Ile)
NM_006070.6(TFG):c.162A>C (p.Val54=)
NM_006070.6(TFG):c.166A>G (p.Ile56Val)
NM_006070.6(TFG):c.174T>C (p.Tyr58=)
NM_006070.6(TFG):c.175A>G (p.Lys59Glu)
NM_006070.6(TFG):c.17A>C (p.Asp6Ala)
NM_006070.6(TFG):c.183A>C (p.Glu61Asp)
NM_006070.6(TFG):c.184+13T>C
NM_006070.6(TFG):c.184+5G>A
NM_006070.6(TFG):c.184+6A>C
NM_006070.6(TFG):c.185-10T>A rs79631225
NM_006070.6(TFG):c.185-10T>C rs79631225
NM_006070.6(TFG):c.185-13T>C
NM_006070.6(TFG):c.185-7del rs776693527
NM_006070.6(TFG):c.194T>G (p.Leu65Arg) rs2149066367
NM_006070.6(TFG):c.196A>G (p.Ile66Val) rs2095056321
NM_006070.6(TFG):c.197T>C (p.Ile66Thr)
NM_006070.6(TFG):c.198A>G (p.Ile66Met) rs2095056339
NM_006070.6(TFG):c.219C>T (p.Asp73=) rs2149066401
NM_006070.6(TFG):c.230C>T (p.Ala77Val)
NM_006070.6(TFG):c.231A>G (p.Ala77=) rs771223027
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.24T>C (p.Ser8=) rs1553699512
NM_006070.6(TFG):c.254A>C (p.Lys85Thr)
NM_006070.6(TFG):c.258G>A (p.Leu86=)
NM_006070.6(TFG):c.261A>G (p.Thr87=) rs2149066459
NM_006070.6(TFG):c.264A>G (p.Leu88=)
NM_006070.6(TFG):c.268+12A>G rs2149066494
NM_006070.6(TFG):c.268+18del
NM_006070.6(TFG):c.268+7A>G
NM_006070.6(TFG):c.268+8G>A rs1227137986
NM_006070.6(TFG):c.269-13G>A
NM_006070.6(TFG):c.276C>T (p.Gly92=)
NM_006070.6(TFG):c.280C>A (p.Pro94Thr)
NM_006070.6(TFG):c.288C>G (p.Pro96=) rs1180461235
NM_006070.6(TFG):c.290T>A (p.Leu97His) rs1576366321
NM_006070.6(TFG):c.303G>A (p.Gln101=)
NM_006070.6(TFG):c.303G>C (p.Gln101His) rs746086227
NM_006070.6(TFG):c.320G>A (p.Arg107Gln)
NM_006070.6(TFG):c.324A>G (p.Glu108=)
NM_006070.6(TFG):c.325C>T (p.Leu109=)
NM_006070.6(TFG):c.330A>G (p.Ile110Met)
NM_006070.6(TFG):c.332A>C (p.Glu111Ala)
NM_006070.6(TFG):c.338G>T (p.Arg113Leu)
NM_006070.6(TFG):c.33A>T (p.Leu11=)
NM_006070.6(TFG):c.341A>G (p.Asn114Ser) rs752292956
NM_006070.6(TFG):c.348G>C (p.Val116=) rs1576366448
NM_006070.6(TFG):c.34A>G (p.Ile12Val) rs2149057606
NM_006070.6(TFG):c.352C>T (p.Arg118Cys)
NM_006070.6(TFG):c.353G>A (p.Arg118His) rs376804190
NM_006070.6(TFG):c.361G>A (p.Asp121Asn)
NM_006070.6(TFG):c.361G>T (p.Asp121Tyr) rs907540820
NM_006070.6(TFG):c.373C>T (p.Pro125Ser) rs746234370
NM_006070.6(TFG):c.37A>G (p.Ile13Val) rs200695895
NM_006070.6(TFG):c.403A>G (p.Ile135Val)
NM_006070.6(TFG):c.415+12del rs765751527
NM_006070.6(TFG):c.415+18T>G rs752417508
NM_006070.6(TFG):c.415+8del rs2149078273
NM_006070.6(TFG):c.416-12C>G rs2149082632
NM_006070.6(TFG):c.416-4A>G
NM_006070.6(TFG):c.416-8T>A rs1321102960
NM_006070.6(TFG):c.417T>C (p.Asp139=)
NM_006070.6(TFG):c.432G>A (p.Arg144=)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg) rs1244307042
NM_006070.6(TFG):c.478del (p.Val160fs) rs2149082751
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.489A>G (p.Ala163=)
NM_006070.6(TFG):c.504T>C (p.Phe168=)
NM_006070.6(TFG):c.514A>G (p.Lys172Glu) rs2149082817
NM_006070.6(TFG):c.518A>G (p.Asn173Ser)
NM_006070.6(TFG):c.524A>G (p.Asp175Gly)
NM_006070.6(TFG):c.531C>T (p.Ile177=) rs766735962
NM_006070.6(TFG):c.533A>G (p.Asn178Ser)
NM_006070.6(TFG):c.53G>C (p.Gly18Ala)
NM_006070.6(TFG):c.541_543del (p.Val181del)
NM_006070.6(TFG):c.552G>C (p.Ala184=)
NM_006070.6(TFG):c.556G>A (p.Gly186Ser) rs867024898
NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
NM_006070.6(TFG):c.567T>A (p.Asp189Glu) rs370447670
NM_006070.6(TFG):c.57G>A (p.Glu19=) rs1576353054
NM_006070.6(TFG):c.580+14del
NM_006070.6(TFG):c.580+16A>G
NM_006070.6(TFG):c.580+19C>T
NM_006070.6(TFG):c.581-10G>T
NM_006070.6(TFG):c.581-11dup
NM_006070.6(TFG):c.581-14_581-11del
NM_006070.6(TFG):c.581-24_581-9del
NM_006070.6(TFG):c.581-8C>G
NM_006070.6(TFG):c.585A>C (p.Pro195=)
NM_006070.6(TFG):c.588C>T (p.Pro196=) rs2149087481
NM_006070.6(TFG):c.597T>C (p.Pro199=)
NM_006070.6(TFG):c.600A>G (p.Ala200=)
NM_006070.6(TFG):c.61A>G (p.Ile21Val)
NM_006070.6(TFG):c.61A>T (p.Ile21Phe) rs377136610
NM_006070.6(TFG):c.621C>G (p.Pro207=) rs141786985
NM_006070.6(TFG):c.622G>A (p.Asp208Asn) rs34112649
NM_006070.6(TFG):c.636C>T (p.Ser212=)
NM_006070.6(TFG):c.638C>G (p.Ser213Cys) rs2095107235
NM_006070.6(TFG):c.641C>G (p.Ser214Cys)
NM_006070.6(TFG):c.641C>T (p.Ser214Phe)
NM_006070.6(TFG):c.663C>T (p.Gly221=) rs140669729
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.684A>G (p.Pro228=)
NM_006070.6(TFG):c.689C>A (p.Thr230Lys)
NM_006070.6(TFG):c.689C>T (p.Thr230Ile)
NM_006070.6(TFG):c.700A>G (p.Thr234Ala)
NM_006070.6(TFG):c.701C>T (p.Thr234Ile)
NM_006070.6(TFG):c.709G>A (p.Gly237Ser)
NM_006070.6(TFG):c.715A>G (p.Ile239Val)
NM_006070.6(TFG):c.721+14T>C
NM_006070.6(TFG):c.721+14del rs1005708219
NM_006070.6(TFG):c.721+19C>T rs1361371990
NM_006070.6(TFG):c.721+20A>T
NM_006070.6(TFG):c.722-10G>C
NM_006070.6(TFG):c.722-25TG[5]
NM_006070.6(TFG):c.722-25TG[6]
NM_006070.6(TFG):c.722-5_722-4dup rs1242696461
NM_006070.6(TFG):c.722-8G>A
NM_006070.6(TFG):c.729G>A (p.Met243Ile)
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.741C>T (p.Tyr247=) rs1576379547
NM_006070.6(TFG):c.743A>G (p.Gln248Arg) rs1576379554
NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)
NM_006070.6(TFG):c.766C>A (p.Gln256Lys)
NM_006070.6(TFG):c.774G>A (p.Pro258=) rs1367793822
NM_006070.6(TFG):c.774G>C (p.Pro258=)
NM_006070.6(TFG):c.776A>G (p.Gln259Arg) rs891678936
NM_006070.6(TFG):c.781C>G (p.Pro261Ala)
NM_006070.6(TFG):c.783A>G (p.Pro261=)
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
NM_006070.6(TFG):c.796C>G (p.Gln266Glu)
NM_006070.6(TFG):c.808A>C (p.Ile270Leu)
NM_006070.6(TFG):c.80A>G (p.His27Arg)
NM_006070.6(TFG):c.820+15_820+19del
NM_006070.6(TFG):c.820+18G>A
NM_006070.6(TFG):c.820+19G>C
NM_006070.6(TFG):c.820+8G>A rs2149096879
NM_006070.6(TFG):c.821-18T>C rs756950367
NM_006070.6(TFG):c.821-18_821-16del rs2149105617
NM_006070.6(TFG):c.821-20T>A rs2149105586
NM_006070.6(TFG):c.821-5T>C rs2149105737
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.827A>G (p.Tyr276Cys)
NM_006070.6(TFG):c.830G>A (p.Ser277Asn)
NM_006070.6(TFG):c.833A>C (p.Gln278Pro)
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006070.6(TFG):c.870A>G (p.Gly290=) rs2095153634
NM_006070.6(TFG):c.870A>T (p.Gly290=)
NM_006070.6(TFG):c.874G>A (p.Gly292Ser) rs1053918783
NM_006070.6(TFG):c.875G>C (p.Gly292Ala)
NM_006070.6(TFG):c.880C>A (p.Gln294Lys)
NM_006070.6(TFG):c.889del (p.Ser297fs)
NM_006070.6(TFG):c.898C>A (p.Pro300Thr) rs1210008384
NM_006070.6(TFG):c.898C>T (p.Pro300Ser) rs1210008384
NM_006070.6(TFG):c.908C>T (p.Ala303Val) rs1576389064
NM_006070.6(TFG):c.923C>G (p.Pro308Arg) rs2149106095
NM_006070.6(TFG):c.923C>T (p.Pro308Leu)
NM_006070.6(TFG):c.925C>G (p.Gln309Glu)
NM_006070.6(TFG):c.927A>G (p.Gln309=)
NM_006070.6(TFG):c.928C>A (p.Gln310Lys)
NM_006070.6(TFG):c.933G>T (p.Leu311=) rs2149106140
NM_006070.6(TFG):c.939T>C (p.Ala313=)
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.954G>A (p.Gln318=)
NM_006070.6(TFG):c.960G>T (p.Gln320His)
NM_006070.6(TFG):c.962C>G (p.Ala321Gly)
NM_006070.6(TFG):c.968A>G (p.Asn323Ser)
NM_006070.6(TFG):c.976G>T (p.Ala326Ser) rs776620173
NM_006070.6(TFG):c.97T>C (p.Tyr33His) rs2095037556
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.986A>C (p.Tyr329Ser)
NM_006070.6(TFG):c.986dup (p.Tyr329Ter) rs2095154725
NM_006070.6(TFG):c.987C>T (p.Tyr329=) rs1362903359
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys) rs763523148
NM_006070.6(TFG):c.993C>G (p.Ala331=)
NM_006070.6(TFG):c.993C>T (p.Ala331=) rs1490621305
NM_006070.6(TFG):c.99T>A (p.Tyr33Ter)
NM_006070.6(TFG):c.99T>C (p.Tyr33=)
NM_006070.6(TFG):c.9_10delinsGA (p.Gln4Lys) rs2095037361

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