ClinVar Miner

List of variants in gene TMC1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 648
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.-219A>G rs7026304 0.55869
NM_138691.3(TMC1):c.-468G>A rs7022441 0.53167
NM_138691.3(TMC1):c.236+216T>C rs2589614 0.51877
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_138691.3(TMC1):c.-305-67G>A rs10217204 0.49983
NM_138691.3(TMC1):c.2261-13G>T rs115008515 0.41445
NM_138691.3(TMC1):c.362+100T>C rs7046504 0.32826
NM_138691.3(TMC1):c.2260+306C>A rs4330753 0.32033
NM_138691.3(TMC1):c.535+201A>G rs2793171 0.22165
NM_138691.3(TMC1):c.535+101A>G rs7848136 0.22130
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_138691.3(TMC1):c.535+74G>A rs12345051 0.14748
NM_138691.3(TMC1):c.-329C>A rs7856724 0.13978
NM_138691.3(TMC1):c.16+94T>G rs1444842 0.10653
NM_138691.3(TMC1):c.1764-168T>C rs12002855 0.09630
NM_138691.3(TMC1):c.1764-319G>A rs12001653 0.09630
NM_138691.3(TMC1):c.1566+169G>C rs72733079 0.09501
NM_138691.3(TMC1):c.1029+85T>C rs55846842 0.09096
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_138691.3(TMC1):c.1763+123G>A rs56349532 0.08858
NM_138691.3(TMC1):c.1225-276A>G rs75047732 0.08856
NM_138691.3(TMC1):c.1567-67T>A rs7860172 0.08697
NM_138691.3(TMC1):c.2208+49C>T rs13286809 0.08377
NM_138691.3(TMC1):c.643-169A>T rs13285034 0.06466
NM_138691.3(TMC1):c.1695+289A>G rs199694514 0.06358
NM_138691.3(TMC1):c.16+190C>T rs34872646 0.05154
NM_138691.3(TMC1):c.2130-234C>A rs36032914 0.04035
NM_138691.3(TMC1):c.2130-279T>G rs13297120 0.04031
NM_138691.3(TMC1):c.742-125T>A rs141112557 0.02734
NM_138691.3(TMC1):c.884+318A>G rs74782211 0.02131
NM_138691.3(TMC1):c.1404+50C>T rs74517917 0.01848
NM_138691.3(TMC1):c.1695+37A>T rs753387796 0.01692
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
NM_138691.3(TMC1):c.1566+59C>A rs55633682 0.01410
NM_138691.3(TMC1):c.1696-85C>G rs79639106 0.01327
NM_138691.3(TMC1):c.1695+317C>T rs555717292 0.01259
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_138691.3(TMC1):c.363-28A>G rs77477610 0.01036
NM_138691.3(TMC1):c.741+167A>G rs182466646 0.01005
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_138691.3(TMC1):c.363-26C>A rs145181573 0.00723
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_138691.3(TMC1):c.1225-190C>G rs142519449 0.00671
NM_138691.3(TMC1):c.2129+33C>T rs111810642 0.00648
NM_138691.3(TMC1):c.2129+197A>G rs12005837 0.00611
NM_138691.3(TMC1):c.1404+49C>G rs12003753 0.00610
NM_138691.3(TMC1):c.237-173A>G rs137976727 0.00543
NM_138691.3(TMC1):c.362+124C>T rs1041642772 0.00517
NM_138691.3(TMC1):c.1566+306G>A rs113427480 0.00510
NM_138691.3(TMC1):c.16+207G>T rs73647684 0.00510
NM_138691.3(TMC1):c.1029+260G>T rs112067652 0.00495
NM_138691.3(TMC1):c.1030-275T>A rs76511258 0.00490
NM_138691.3(TMC1):c.453+277A>C rs115208433 0.00485
NM_138691.3(TMC1):c.1696-297T>C rs115032599 0.00473
NM_138691.3(TMC1):c.16+196T>C rs148612939 0.00438
NM_138691.3(TMC1):c.2261-212A>G rs115418614 0.00434
NM_138691.3(TMC1):c.363-107G>A rs143738360 0.00429
NM_138691.3(TMC1):c.237-44G>A rs117344485 0.00383
NM_138691.3(TMC1):c.1763+198T>C rs76665233 0.00327
NM_138691.3(TMC1):c.453+189G>A rs141930290 0.00315
NM_138691.3(TMC1):c.2260+3_2260+5del rs546307383 0.00308
NM_138691.3(TMC1):c.2004-44A>C rs111781117 0.00282
NM_138691.3(TMC1):c.454-30C>T rs199771068 0.00263
NM_138691.3(TMC1):c.1404+16G>A rs189532643 0.00254
NM_138691.3(TMC1):c.2004-46C>T rs141086229 0.00102
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_138691.3(TMC1):c.*93C>T rs184207177 0.00061
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu) rs140388347 0.00061
NM_138691.3(TMC1):c.1566+8C>T rs202184917 0.00059
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_138691.3(TMC1):c.696C>T (p.Ala232=) rs112843964 0.00047
NM_138691.3(TMC1):c.1602C>G (p.Thr534=) rs111033462 0.00044
NM_138691.3(TMC1):c.135C>A (p.Thr45=) rs111353632 0.00036
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr) rs111033464 0.00034
NM_138691.3(TMC1):c.1764-5T>C rs373603119 0.00032
NM_138691.3(TMC1):c.1534C>T (p.Arg512Ter) rs200171616 0.00031
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_138691.3(TMC1):c.1705A>G (p.Thr569Ala) rs148971770 0.00016
NM_138691.3(TMC1):c.448G>A (p.Ala150Thr) rs534560340 0.00016
NM_138691.3(TMC1):c.822G>A (p.Pro274=) rs370523728 0.00016
NM_138691.3(TMC1):c.1225-8C>T rs375785074 0.00013
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=) rs552170649 0.00013
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val) rs573874378 0.00011
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
NM_138691.3(TMC1):c.2254C>T (p.Arg752Ter) rs149506642 0.00010
NM_138691.3(TMC1):c.1846G>A (p.Val616Ile) rs376422017 0.00009
NM_138691.3(TMC1):c.498G>A (p.Ala166=) rs370032879 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) rs201955337 0.00008
NM_138691.3(TMC1):c.2129+15T>A rs747921456 0.00008
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) rs139102393 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_138691.3(TMC1):c.1018A>G (p.Met340Val) rs771281791 0.00007
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_138691.3(TMC1):c.1301A>C (p.His434Pro) rs375264737 0.00006
NM_138691.3(TMC1):c.1966G>A (p.Val656Met) rs144147585 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_138691.3(TMC1):c.472C>T (p.Arg158Cys) rs200841002 0.00006
NM_138691.3(TMC1):c.483G>A (p.Glu161=) rs375984349 0.00006
NM_138691.3(TMC1):c.708G>A (p.Ser236=) rs759815339 0.00006
NM_138691.3(TMC1):c.928A>G (p.Thr310Ala) rs144501871 0.00006
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_138691.3(TMC1):c.59G>C (p.Ser20Thr) rs189479995 0.00005
NM_138691.3(TMC1):c.885-11T>C rs768694342 0.00005
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.1311C>T (p.Ile437=) rs537381495 0.00003
NM_138691.3(TMC1):c.1387G>A (p.Asp463Asn) rs758352261 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_138691.3(TMC1):c.627C>T (p.Leu209=) rs748580616 0.00003
NM_138691.3(TMC1):c.791G>A (p.Arg264Gln) rs147147941 0.00003
NM_138691.3(TMC1):c.921T>C (p.Asp307=) rs1216176717 0.00003
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys) rs148443938 0.00003
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser) rs397517834 0.00002
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) rs121908074 0.00002
NM_138691.3(TMC1):c.2178G>A (p.Ala726=) rs555517698 0.00002
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00002
NM_138691.3(TMC1):c.342G>A (p.Glu114=) rs370554600 0.00002
NM_138691.3(TMC1):c.674C>T (p.Pro225Leu) rs370088722 0.00002
NM_138691.3(TMC1):c.697G>A (p.Glu233Lys) rs373537563 0.00002
NM_138691.3(TMC1):c.777T>C (p.Tyr259=) rs727503482 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_138691.3(TMC1):c.1010C>A (p.Ser337Tyr) rs376305043 0.00001
NM_138691.3(TMC1):c.1029+3A>G rs1588083737 0.00001
NM_138691.3(TMC1):c.1111T>C (p.Phe371Leu) rs758739636 0.00001
NM_138691.3(TMC1):c.1189G>A (p.Asp397Asn) rs185702148 0.00001
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile) rs184603559 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1471A>T (p.Asn491Tyr) rs887241990 0.00001
NM_138691.3(TMC1):c.1626G>A (p.Gly542=) rs778829243 0.00001
NM_138691.3(TMC1):c.1629C>T (p.Asp543=) rs745630603 0.00001
NM_138691.3(TMC1):c.1735G>A (p.Ala579Thr) rs1250257217 0.00001
NM_138691.3(TMC1):c.1810C>T (p.Arg604Ter) rs777777359 0.00001
NM_138691.3(TMC1):c.2208+20A>T rs754557410 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_138691.3(TMC1):c.405G>T (p.Gly135=) rs1391895910 0.00001
NM_138691.3(TMC1):c.462A>G (p.Ala154=) rs539228804 0.00001
NM_138691.3(TMC1):c.534A>T (p.Glu178Asp) rs886042321 0.00001
NM_138691.3(TMC1):c.582G>A (p.Trp194Ter) rs1172357346 0.00001
NM_138691.3(TMC1):c.603T>G (p.Val201=) rs372449375 0.00001
NM_138691.3(TMC1):c.64A>G (p.Ser22Gly) rs144387828 0.00001
NM_138691.3(TMC1):c.656T>C (p.Leu219Ser) rs749608265 0.00001
NM_138691.3(TMC1):c.684C>T (p.Thr228=) rs890529621 0.00001
NM_138691.3(TMC1):c.707C>T (p.Ser236Leu) rs751873680 0.00001
NM_138691.3(TMC1):c.742-12G>T rs886038723 0.00001
NM_138691.3(TMC1):c.830A>G (p.Tyr277Cys) rs774299359 0.00001
NM_138691.3(TMC1):c.884+1G>A rs776689179 0.00001
NM_138691.3(TMC1):c.984T>C (p.Pro328=) rs781353378 0.00001
GRCh37/hg19 9q21.13(chr9:75028573-75163613)x1
GRCh37/hg19 9q21.13(chr9:75274024-75318551)x1
NC_000009.11:g.(?_75231331)_(75263600_?)del
NC_000009.11:g.(?_75231331)_(75387491_?)del
NC_000009.11:g.(?_75231331)_(75407288_?)del
NC_000009.11:g.(?_75231331)_(75450889_?)del
NC_000009.11:g.(?_75263565)_(75263600_?)del
NC_000009.11:g.(?_75357340)_(75357461_?)del
NC_000009.11:g.(?_75431039)_(75431146_?)del
NC_000009.11:g.(?_75431039)_(75450889_?)del
NC_000009.12:g.72740120_72740123del
NM_138691.3(TMC1):c.*262dup rs71495343
NM_138691.3(TMC1):c.-14_-7dup rs573607788
NM_138691.3(TMC1):c.-195-11del rs36038786
NM_138691.3(TMC1):c.1002A>G (p.Lys334=)
NM_138691.3(TMC1):c.1014C>T (p.Ile338=)
NM_138691.3(TMC1):c.1029+10C>G
NM_138691.3(TMC1):c.1029+14C>T
NM_138691.3(TMC1):c.1029+3_1029+4insT
NM_138691.3(TMC1):c.1029+7G>A
NM_138691.3(TMC1):c.1029+7G>C
NM_138691.3(TMC1):c.1030-10A>C
NM_138691.3(TMC1):c.1030-10A>T
NM_138691.3(TMC1):c.1030-16G>T
NM_138691.3(TMC1):c.1030-20G>T
NM_138691.3(TMC1):c.1030-31TTTG[3] rs745417408
NM_138691.3(TMC1):c.1030-98_1177del
NM_138691.3(TMC1):c.1035T>A (p.Ala345=)
NM_138691.3(TMC1):c.1041A>T (p.Thr347=)
NM_138691.3(TMC1):c.1050dup (p.Ala351fs)
NM_138691.3(TMC1):c.1053A>C (p.Ala351=)
NM_138691.3(TMC1):c.1056C>A (p.Ala352=)
NM_138691.3(TMC1):c.1080G>A (p.Leu360=)
NM_138691.3(TMC1):c.108G>A (p.Glu36=)
NM_138691.3(TMC1):c.1100T>G (p.Leu367Arg)
NM_138691.3(TMC1):c.1107C>T (p.Asn369=)
NM_138691.3(TMC1):c.1113C>A (p.Phe371Leu) rs762332645
NM_138691.3(TMC1):c.1122A>G (p.Leu374=)
NM_138691.3(TMC1):c.1125A>G (p.Thr375=)
NM_138691.3(TMC1):c.1136G>A (p.Ser379Asn)
NM_138691.3(TMC1):c.1140A>C (p.Gly380=)
NM_138691.3(TMC1):c.1143C>A (p.Tyr381Ter)
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1143C>T (p.Tyr381=)
NM_138691.3(TMC1):c.1144C>T (p.Leu382Phe)
NM_138691.3(TMC1):c.1166G>A (p.Arg389Gln)
NM_138691.3(TMC1):c.1182A>G (p.Ala394=)
NM_138691.3(TMC1):c.1199C>G (p.Thr400Ser)
NM_138691.3(TMC1):c.11A>G (p.Lys4Arg)
NM_138691.3(TMC1):c.1221T>C (p.Asn407=)
NM_138691.3(TMC1):c.1224+13A>C
NM_138691.3(TMC1):c.1224+13A>G
NM_138691.3(TMC1):c.1224+20T>C
NM_138691.3(TMC1):c.1224+240del rs143206763
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1224+5G>A rs397517835
NM_138691.3(TMC1):c.1224+9_1224+10del
NM_138691.3(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.3(TMC1):c.1252A>G (p.Met418Val)
NM_138691.3(TMC1):c.1252A>T (p.Met418Leu) rs775453038
NM_138691.3(TMC1):c.1265C>A (p.Thr422Lys) rs868082421
NM_138691.3(TMC1):c.1275C>T (p.Asp425=)
NM_138691.3(TMC1):c.1276T>C (p.Leu426=)
NM_138691.3(TMC1):c.1302T>C (p.His434=)
NM_138691.3(TMC1):c.1305T>A (p.Pro435=)
NM_138691.3(TMC1):c.1309A>G (p.Ile437Val)
NM_138691.3(TMC1):c.1312G>T (p.Ala438Ser) rs745495139
NM_138691.3(TMC1):c.131G>A (p.Arg44Gln)
NM_138691.3(TMC1):c.1326A>T (p.Leu442=)
NM_138691.3(TMC1):c.1326_1330delinsTTGAAAT (p.Leu443_Gly444delinsTer)
NM_138691.3(TMC1):c.1329G>A (p.Leu443=)
NM_138691.3(TMC1):c.1329G>T (p.Leu443=)
NM_138691.3(TMC1):c.1332del (p.Arg445fs)
NM_138691.3(TMC1):c.1335C>T (p.Arg445=)
NM_138691.3(TMC1):c.1343C>G (p.Ala448Gly)
NM_138691.3(TMC1):c.1356C>G (p.Gly452=) rs1588085456
NM_138691.3(TMC1):c.1358A>G (p.Asn453Ser)
NM_138691.3(TMC1):c.135C>T (p.Thr45=)
NM_138691.3(TMC1):c.1362A>G (p.Leu454=)
NM_138691.3(TMC1):c.1365C>A (p.Tyr455Ter)
NM_138691.3(TMC1):c.1365C>T (p.Tyr455=)
NM_138691.3(TMC1):c.1368A>G (p.Val456=)
NM_138691.3(TMC1):c.1371T>C (p.Phe457=)
NM_138691.3(TMC1):c.1380A>T (p.Ala460=)
NM_138691.3(TMC1):c.1389T>A (p.Asp463Glu)
NM_138691.3(TMC1):c.1398CAA[1] (p.Asn467del)
NM_138691.3(TMC1):c.1404+10G>C
NM_138691.3(TMC1):c.1404+17G>C
NM_138691.3(TMC1):c.1404+18A>G
NM_138691.3(TMC1):c.1405-17A>G
NM_138691.3(TMC1):c.1405-19C>A
NM_138691.3(TMC1):c.1405-1G>C
NM_138691.3(TMC1):c.1405-2A>T
NM_138691.3(TMC1):c.1411G>T (p.Glu471Ter)
NM_138691.3(TMC1):c.1434T>C (p.Asn478=)
NM_138691.3(TMC1):c.1440C>T (p.Thr480=)
NM_138691.3(TMC1):c.1443T>C (p.Leu481=)
NM_138691.3(TMC1):c.1443T>G (p.Leu481=)
NM_138691.3(TMC1):c.1449A>C (p.Glu483Asp) rs1554728060
NM_138691.3(TMC1):c.1465G>A (p.Ala489Thr)
NM_138691.3(TMC1):c.147C>A (p.Ile49=)
NM_138691.3(TMC1):c.1485T>A (p.Ser495=)
NM_138691.3(TMC1):c.1485T>G (p.Ser495=)
NM_138691.3(TMC1):c.1487A>G (p.Glu496Gly) rs2118194034
NM_138691.3(TMC1):c.1494C>T (p.Ser498=)
NM_138691.3(TMC1):c.1500A>G (p.Gly500=)
NM_138691.3(TMC1):c.1506C>G (p.Pro502=) rs2118194195
NM_138691.3(TMC1):c.1524A>G (p.Ala508=)
NM_138691.3(TMC1):c.1535G>A (p.Arg512Gln)
NM_138691.3(TMC1):c.1537G>A (p.Gly513Arg) rs2118194289
NM_138691.3(TMC1):c.1539A>G (p.Gly513=)
NM_138691.3(TMC1):c.1542T>C (p.Pro514=)
NM_138691.3(TMC1):c.1544G>T (p.Cys515Phe)
NM_138691.3(TMC1):c.154G>C (p.Asp52His)
NM_138691.3(TMC1):c.1555A>G (p.Met519Val)
NM_138691.3(TMC1):c.1563A>G (p.Gly521=)
NM_138691.3(TMC1):c.1566+11C>G
NM_138691.3(TMC1):c.1566+14C>G
NM_138691.3(TMC1):c.1566+19G>A
NM_138691.3(TMC1):c.1566+19G>T
NM_138691.3(TMC1):c.1566+7C>G
NM_138691.3(TMC1):c.1567-12del
NM_138691.3(TMC1):c.1567-15A>G
NM_138691.3(TMC1):c.1567-1G>A
NM_138691.3(TMC1):c.1567-20T>C
NM_138691.3(TMC1):c.1567-8C>A
NM_138691.3(TMC1):c.1588T>C (p.Ser530Pro) rs750746559
NM_138691.3(TMC1):c.1590T>A (p.Ser530=)
NM_138691.3(TMC1):c.1598T>C (p.Leu533Pro)
NM_138691.3(TMC1):c.1599G>A (p.Leu533=)
NM_138691.3(TMC1):c.16+14C>A
NM_138691.3(TMC1):c.16+1G>A
NM_138691.3(TMC1):c.16+20T>C
NM_138691.3(TMC1):c.16+23_16+26del
NM_138691.3(TMC1):c.1602C>T (p.Thr534=)
NM_138691.3(TMC1):c.1607A>G (p.Tyr536Cys)
NM_138691.3(TMC1):c.1620C>T (p.Leu540=)
NM_138691.3(TMC1):c.1633C>T (p.Leu545=)
NM_138691.3(TMC1):c.1648G>T (p.Val550Leu)
NM_138691.3(TMC1):c.1653G>A (p.Arg551=)
NM_138691.3(TMC1):c.1663T>G (p.Tyr555Asp)
NM_138691.3(TMC1):c.1665T>C (p.Tyr555=)
NM_138691.3(TMC1):c.1670G>C (p.Trp557Ser)
NM_138691.3(TMC1):c.1671G>T (p.Trp557Cys)
NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.3(TMC1):c.1679A>T (p.Asp560Val)
NM_138691.3(TMC1):c.1680C>T (p.Asp560=)
NM_138691.3(TMC1):c.1681T>C (p.Leu561=)
NM_138691.3(TMC1):c.1688A>G (p.Tyr563Cys) rs2118239557
NM_138691.3(TMC1):c.1695+102T>G rs35431794
NM_138691.3(TMC1):c.1695+11T>C
NM_138691.3(TMC1):c.1695+12G>A
NM_138691.3(TMC1):c.1695+17T>G
NM_138691.3(TMC1):c.1695+2T>G
NM_138691.3(TMC1):c.1695+36del rs111880209
NM_138691.3(TMC1):c.1695+36dup rs111880209
NM_138691.3(TMC1):c.1695+8T>C
NM_138691.3(TMC1):c.1696-11_1696-10del rs563515255
NM_138691.3(TMC1):c.1696-14T>C
NM_138691.3(TMC1):c.1696-17C>T
NM_138691.3(TMC1):c.1696-19A>T
NM_138691.3(TMC1):c.1696-7C>T
NM_138691.3(TMC1):c.1696C>G (p.Pro566Ala) rs2118284014
NM_138691.3(TMC1):c.17-16T>C
NM_138691.3(TMC1):c.17-6C>A
NM_138691.3(TMC1):c.1701A>G (p.Ser567=)
NM_138691.3(TMC1):c.1704C>T (p.Tyr568=)
NM_138691.3(TMC1):c.1707C>A (p.Thr569=)
NM_138691.3(TMC1):c.1707C>T (p.Thr569=)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1734C>T (p.Leu578=) rs374323593
NM_138691.3(TMC1):c.1749C>T (p.Asn583=)
NM_138691.3(TMC1):c.1750C>T (p.Gln584Ter)
NM_138691.3(TMC1):c.1751A>G (p.Gln584Arg)
NM_138691.3(TMC1):c.1757del (p.Met586fs)
NM_138691.3(TMC1):c.1762T>C (p.Trp588Arg)
NM_138691.3(TMC1):c.1763+15G>A
NM_138691.3(TMC1):c.1763+17A>G
NM_138691.3(TMC1):c.1763+20G>A
NM_138691.3(TMC1):c.1763+8A>G
NM_138691.3(TMC1):c.1764-12T>C
NM_138691.3(TMC1):c.1764-13G>C
NM_138691.3(TMC1):c.1764-13G>T
NM_138691.3(TMC1):c.1764-15C>G
NM_138691.3(TMC1):c.1764-15C>T
NM_138691.3(TMC1):c.1764-17T>C
NM_138691.3(TMC1):c.1764-17T>G
NM_138691.3(TMC1):c.1764G>A (p.Trp588Ter)
NM_138691.3(TMC1):c.1769G>T (p.Gly590Val) rs1397306960
NM_138691.3(TMC1):c.1773C>T (p.Ser591=)
NM_138691.3(TMC1):c.177G>A (p.Glu59=)
NM_138691.3(TMC1):c.1780del (p.Ala594fs)
NM_138691.3(TMC1):c.1794A>G (p.Pro598=)
NM_138691.3(TMC1):c.1799T>G (p.Ile600Ser) rs2118298452
NM_138691.3(TMC1):c.1800C>T (p.Ile600=)
NM_138691.3(TMC1):c.1805T>G (p.Ile602Ser)
NM_138691.3(TMC1):c.1845C>T (p.Ala615=)
NM_138691.3(TMC1):c.1849A>T (p.Met617Leu)
NM_138691.3(TMC1):c.1876G>A (p.Val626Ile)
NM_138691.3(TMC1):c.1902C>T (p.Asn634=)
NM_138691.3(TMC1):c.1911G>C (p.Leu637=)
NM_138691.3(TMC1):c.1914C>A (p.Gly638=)
NM_138691.3(TMC1):c.1921C>T (p.Leu641=)
NM_138691.3(TMC1):c.193A>G (p.Lys65Glu)
NM_138691.3(TMC1):c.1941C>T (p.Ser647=) rs2118299085
NM_138691.3(TMC1):c.1946T>C (p.Met649Thr)
NM_138691.3(TMC1):c.1965C>T (p.Ile655=)
NM_138691.3(TMC1):c.1968G>A (p.Val656=)
NM_138691.3(TMC1):c.1971C>T (p.Ser657=)
NM_138691.3(TMC1):c.1980A>G (p.Pro660=)
NM_138691.3(TMC1):c.1989T>C (p.Asp663=)
NM_138691.3(TMC1):c.2002A>C (p.Ser668Arg)
NM_138691.3(TMC1):c.2003+17A>G
NM_138691.3(TMC1):c.2003+18T>C
NM_138691.3(TMC1):c.2004-12T>A
NM_138691.3(TMC1):c.2004-18C>T
NM_138691.3(TMC1):c.2004-20C>T
NM_138691.3(TMC1):c.2004-5C>T
NM_138691.3(TMC1):c.2007C>G (p.Gly669=)
NM_138691.3(TMC1):c.2010A>G (p.Lys670=)
NM_138691.3(TMC1):c.2012dup (p.Asn671fs) rs2118318502
NM_138691.3(TMC1):c.2014A>G (p.Arg672Gly) rs1164767371
NM_138691.3(TMC1):c.2016A>G (p.Arg672=)
NM_138691.3(TMC1):c.2030T>C (p.Ile677Thr)
NM_138691.3(TMC1):c.2036A>G (p.Glu679Gly)
NM_138691.3(TMC1):c.2046G>A (p.Glu682=)
NM_138691.3(TMC1):c.2049C>T (p.His683=)
NM_138691.3(TMC1):c.2050G>A (p.Asp684Asn) rs563322370
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
NM_138691.3(TMC1):c.2058A>C (p.Pro686=)
NM_138691.3(TMC1):c.2066T>C (p.Met689Thr)
NM_138691.3(TMC1):c.2085G>A (p.Gln695=)
NM_138691.3(TMC1):c.2094C>T (p.Asn698=)
NM_138691.3(TMC1):c.2097T>C (p.Pro699=)
NM_138691.3(TMC1):c.211AGG[5] (p.Arg74_Leu75insArg)
NM_138691.3(TMC1):c.2129+10T>C
NM_138691.3(TMC1):c.2129+13C>T
NM_138691.3(TMC1):c.2129+7G>C
NM_138691.3(TMC1):c.2130-13C>T
NM_138691.3(TMC1):c.2130-13_2130-12del
NM_138691.3(TMC1):c.2130-13_2130-9del
NM_138691.3(TMC1):c.2130-14T>G
NM_138691.3(TMC1):c.2130-1del rs1554731002
NM_138691.3(TMC1):c.2130-4T>C
NM_138691.3(TMC1):c.2130-9T>G
NM_138691.3(TMC1):c.2133G>A (p.Leu711=)
NM_138691.3(TMC1):c.2136C>T (p.Ala712=)
NM_138691.3(TMC1):c.2139C>T (p.Ile713=)
NM_138691.3(TMC1):c.2145T>G (p.Tyr715Ter)
NM_138691.3(TMC1):c.2148C>G (p.Leu716=)
NM_138691.3(TMC1):c.2154T>C (p.Ala718=)
NM_138691.3(TMC1):c.2163G>T (p.Lys721Asn)
NM_138691.3(TMC1):c.2193A>G (p.Lys731=)
NM_138691.3(TMC1):c.2196G>A (p.Lys732=)
NM_138691.3(TMC1):c.2201T>C (p.Met734Thr)
NM_138691.3(TMC1):c.2208+11A>G
NM_138691.3(TMC1):c.2208+15A>G
NM_138691.3(TMC1):c.2208+18T>C
NM_138691.3(TMC1):c.2208+19C>T
NM_138691.3(TMC1):c.2208+1G>C
NM_138691.3(TMC1):c.2208+7T>C
NM_138691.3(TMC1):c.2208+9C>A
NM_138691.3(TMC1):c.2209-10dup
NM_138691.3(TMC1):c.2209-16A>G
NM_138691.3(TMC1):c.2209-17T>G
NM_138691.3(TMC1):c.2209-18T>G
NM_138691.3(TMC1):c.2209-7T>C
NM_138691.3(TMC1):c.2209-9_2209-8del
NM_138691.3(TMC1):c.2219del (p.Glu740fs)
NM_138691.3(TMC1):c.2223C>T (p.Asn741=)
NM_138691.3(TMC1):c.2231G>A (p.Arg744Gln)
NM_138691.3(TMC1):c.2241A>G (p.Lys747=)
NM_138691.3(TMC1):c.2249C>A (p.Ala750Asp) rs1829026565
NM_138691.3(TMC1):c.2260+10A>C
NM_138691.3(TMC1):c.2260+11C>T
NM_138691.3(TMC1):c.2260+12G>A
NM_138691.3(TMC1):c.2260+16A>G
NM_138691.3(TMC1):c.2260+19T>A
NM_138691.3(TMC1):c.2260+27_2260+35del
NM_138691.3(TMC1):c.2260+46C>T rs956799073
NM_138691.3(TMC1):c.2260+5G>A
NM_138691.3(TMC1):c.2260+8A>C
NM_138691.3(TMC1):c.2261-13G>A
NM_138691.3(TMC1):c.2261-15C>T rs200393712
NM_138691.3(TMC1):c.2261-16T>C rs1243733924
NM_138691.3(TMC1):c.2261-16_2261-15insTAT
NM_138691.3(TMC1):c.2261-17T>G
NM_138691.3(TMC1):c.2261-1G>A
NM_138691.3(TMC1):c.2261-53TC[8] rs113386228
NM_138691.3(TMC1):c.2261-8G>T rs775297606
NM_138691.3(TMC1):c.2265A>T (p.Ala755=)
NM_138691.3(TMC1):c.2283A>G (p.Ter761=)
NM_138691.3(TMC1):c.236+12C>G
NM_138691.3(TMC1):c.236+12C>T
NM_138691.3(TMC1):c.236+1G>T rs775428246
NM_138691.3(TMC1):c.236+9G>C
NM_138691.3(TMC1):c.236C>A (p.Ala79Glu) rs140482278
NM_138691.3(TMC1):c.236C>T (p.Ala79Val)
NM_138691.3(TMC1):c.237-236dup rs11378545
NM_138691.3(TMC1):c.237-254del rs113598491
NM_138691.3(TMC1):c.237-254dup rs113598491
NM_138691.3(TMC1):c.237-6T>C
NM_138691.3(TMC1):c.237-7T>G
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138691.3(TMC1):c.244G>T (p.Glu82Ter)
NM_138691.3(TMC1):c.247G>T (p.Glu83Ter)
NM_138691.3(TMC1):c.257A>G (p.Glu86Gly)
NM_138691.3(TMC1):c.265T>C (p.Leu89=) rs886043585
NM_138691.3(TMC1):c.282dup (p.Glu95fs)
NM_138691.3(TMC1):c.286T>C (p.Leu96=)
NM_138691.3(TMC1):c.291T>C (p.Asp97=)
NM_138691.3(TMC1):c.315T>C (p.Thr105=)
NM_138691.3(TMC1):c.331T>C (p.Trp111Arg)
NM_138691.3(TMC1):c.332G>A (p.Trp111Ter) rs1345926328
NM_138691.3(TMC1):c.33G>T (p.Glu11Asp)
NM_138691.3(TMC1):c.345G>C (p.Lys115Asn)
NM_138691.3(TMC1):c.35A>G (p.Glu12Gly) rs2132183942
NM_138691.3(TMC1):c.360del (p.Lys121fs)
NM_138691.3(TMC1):c.362+101AC[10] rs1189207416
NM_138691.3(TMC1):c.362+101AC[9] rs1189207416
NM_138691.3(TMC1):c.362+101_362+102insTACA rs1242969553
NM_138691.3(TMC1):c.362+118_362+119del rs1554721639
NM_138691.3(TMC1):c.362+119AC[10] rs10645769
NM_138691.3(TMC1):c.362+119AC[11] rs10645769
NM_138691.3(TMC1):c.362+11A>G
NM_138691.3(TMC1):c.362+12_362+15dup
NM_138691.3(TMC1):c.362+15T>C
NM_138691.3(TMC1):c.362+18del
NM_138691.3(TMC1):c.362+1G>C
NM_138691.3(TMC1):c.362+71AT[11] rs72200654
NM_138691.3(TMC1):c.362+71AT[12] rs72200654
NM_138691.3(TMC1):c.362+71AT[13] rs72200654
NM_138691.3(TMC1):c.362+71AT[14] rs72200654
NM_138691.3(TMC1):c.362+71AT[16] rs72200654
NM_138691.3(TMC1):c.362+84_362+123del rs71359517
NM_138691.3(TMC1):c.362+8_362+9del
NM_138691.3(TMC1):c.362+99_362+100insCA rs1256344062
NM_138691.3(TMC1):c.362+9C>T
NM_138691.3(TMC1):c.363-11T>G
NM_138691.3(TMC1):c.363-20T>C
NM_138691.3(TMC1):c.363-8T>C
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.375dup (p.Phe126fs)
NM_138691.3(TMC1):c.379G>A (p.Val127Met)
NM_138691.3(TMC1):c.382A>G (p.Ser128Gly)
NM_138691.3(TMC1):c.399T>C (p.Ala133=)
NM_138691.3(TMC1):c.422G>A (p.Arg141Gln)
NM_138691.3(TMC1):c.435T>C (p.Phe145=)
NM_138691.3(TMC1):c.453+14T>C
NM_138691.3(TMC1):c.453+15A>C
NM_138691.3(TMC1):c.453+16G>A
NM_138691.3(TMC1):c.453+2T>C rs2118015234
NM_138691.3(TMC1):c.453+5G>T
NM_138691.3(TMC1):c.454-13A>T
NM_138691.3(TMC1):c.454-19T>C
NM_138691.3(TMC1):c.454-20G>T
NM_138691.3(TMC1):c.454-4T>G
NM_138691.3(TMC1):c.454-9T>C
NM_138691.3(TMC1):c.458G>A (p.Trp153Ter)
NM_138691.3(TMC1):c.460G>T (p.Ala154Ser)
NM_138691.3(TMC1):c.464A>C (p.Lys155Thr)
NM_138691.3(TMC1):c.504C>G (p.Val168=)
NM_138691.3(TMC1):c.507A>G (p.Pro169=)
NM_138691.3(TMC1):c.509G>A (p.Trp170Ter)
NM_138691.3(TMC1):c.510G>A (p.Trp170Ter)
NM_138691.3(TMC1):c.535+103AAAC[3] rs146170244
NM_138691.3(TMC1):c.535+20C>T
NM_138691.3(TMC1):c.535+219G>A rs2793172
NM_138691.3(TMC1):c.536-18T>C
NM_138691.3(TMC1):c.536-1G>A
NM_138691.3(TMC1):c.536-7G>A
NM_138691.3(TMC1):c.537T>G (p.Ser179Arg)
NM_138691.3(TMC1):c.540G>A (p.Gln180=)
NM_138691.3(TMC1):c.558C>T (p.Ala186=)
NM_138691.3(TMC1):c.562_563dup (p.Phe189fs)
NM_138691.3(TMC1):c.570C>T (p.Leu190=)
NM_138691.3(TMC1):c.586T>A (p.Tyr196Asn)
NM_138691.3(TMC1):c.587A>G (p.Tyr196Cys)
NM_138691.3(TMC1):c.589G>A (p.Gly197Arg)
NM_138691.3(TMC1):c.594C>A (p.Val198=)
NM_138691.3(TMC1):c.5C>A (p.Ser2Ter)
NM_138691.3(TMC1):c.617C>T (p.Thr206Ile)
NM_138691.3(TMC1):c.619T>A (p.Phe207Ile)
NM_138691.3(TMC1):c.64+11A>T
NM_138691.3(TMC1):c.64+12T>C
NM_138691.3(TMC1):c.64+19C>T rs1033776269
NM_138691.3(TMC1):c.64+2T>A
NM_138691.3(TMC1):c.64+2T>C
NM_138691.3(TMC1):c.64+7G>A
NM_138691.3(TMC1):c.64+9T>C
NM_138691.3(TMC1):c.642+11A>G
NM_138691.3(TMC1):c.642+14T>G
NM_138691.3(TMC1):c.642+7T>A
NM_138691.3(TMC1):c.643-13C>T
NM_138691.3(TMC1):c.643-14G>A
NM_138691.3(TMC1):c.645C>A (p.Tyr215Ter)
NM_138691.3(TMC1):c.645C>T (p.Tyr215=)
NM_138691.3(TMC1):c.648C>G (p.Leu216=)
NM_138691.3(TMC1):c.65-10C>T rs576970134
NM_138691.3(TMC1):c.65-11G>C
NM_138691.3(TMC1):c.65-316G>A rs1663742
NM_138691.3(TMC1):c.65-8A>C
NM_138691.3(TMC1):c.65-8A>G
NM_138691.3(TMC1):c.663T>C (p.Tyr221=)
NM_138691.3(TMC1):c.666C>T (p.Gly222=)
NM_138691.3(TMC1):c.667_668insAACG (p.Ser223fs)
NM_138691.3(TMC1):c.676A>G (p.Arg226Gly)
NM_138691.3(TMC1):c.684C>A (p.Thr228=)
NM_138691.3(TMC1):c.685G>A (p.Val229Ile)
NM_138691.3(TMC1):c.687T>C (p.Val229=)
NM_138691.3(TMC1):c.688C>T (p.Pro230Ser) rs2118067302
NM_138691.3(TMC1):c.696del (p.Glu233fs)
NM_138691.3(TMC1):c.702G>A (p.Glu234=)
NM_138691.3(TMC1):c.716A>G (p.Asn239Ser)
NM_138691.3(TMC1):c.717C>T (p.Asn239=)
NM_138691.3(TMC1):c.72G>A (p.Glu24=)
NM_138691.3(TMC1):c.732C>T (p.Tyr244=)
NM_138691.3(TMC1):c.735C>T (p.Asp245=)
NM_138691.3(TMC1):c.741+140GAAA[3] rs1201958519
NM_138691.3(TMC1):c.741+155AG[6] rs1379638342
NM_138691.3(TMC1):c.741+155AG[7] rs1379638342
NM_138691.3(TMC1):c.741+187_741+188del rs368423344
NM_138691.3(TMC1):c.741+188GA[10] rs55848138
NM_138691.3(TMC1):c.741+188GA[11] rs55848138
NM_138691.3(TMC1):c.741+188GA[12] rs55848138
NM_138691.3(TMC1):c.741+188GA[14] rs55848138
NM_138691.3(TMC1):c.741+18A>G
NM_138691.3(TMC1):c.741+1G>A rs1588067173
NM_138691.3(TMC1):c.741+212_741+217del rs756603110
NM_138691.3(TMC1):c.741+8T>A
NM_138691.3(TMC1):c.742-19C>A
NM_138691.3(TMC1):c.742-1G>A
NM_138691.3(TMC1):c.742-20G>A
NM_138691.3(TMC1):c.742-20G>T
NM_138691.3(TMC1):c.758C>A (p.Ser253Tyr)
NM_138691.3(TMC1):c.759C>T (p.Ser253=)
NM_138691.3(TMC1):c.761T>C (p.Val254Ala)
NM_138691.3(TMC1):c.765C>A (p.Leu255=)
NM_138691.3(TMC1):c.775T>G (p.Tyr259Asp)
NM_138691.3(TMC1):c.780T>C (p.Tyr260=)
NM_138691.3(TMC1):c.789A>G (p.Lys263=)
NM_138691.3(TMC1):c.78G>A (p.Glu26=)
NM_138691.3(TMC1):c.790C>T (p.Arg264Ter)
NM_138691.3(TMC1):c.800G>A (p.Gly267Glu)
NM_138691.3(TMC1):c.800G>T (p.Gly267Val)
NM_138691.3(TMC1):c.804G>A (p.Trp268Ter)
NM_138691.3(TMC1):c.814A>C (p.Arg272=)
NM_138691.3(TMC1):c.822G>T (p.Pro274=)
NM_138691.3(TMC1):c.828C>T (p.Ser276=)
NM_138691.3(TMC1):c.837A>G (p.Leu279=)
NM_138691.3(TMC1):c.843G>T (p.Gly281=)
NM_138691.3(TMC1):c.84G>A (p.Val28=)
NM_138691.3(TMC1):c.853A>C (p.Ile285Leu) rs2118127067
NM_138691.3(TMC1):c.863_867delinsCATAATCAATACG (p.Ser288_Phe289delinsThrTer)
NM_138691.3(TMC1):c.873T>G (p.Val291=)
NM_138691.3(TMC1):c.879C>G (p.Leu293=)
NM_138691.3(TMC1):c.87A>G (p.Glu29=)
NM_138691.3(TMC1):c.884+12T>C
NM_138691.3(TMC1):c.884+15T>C
NM_138691.3(TMC1):c.884+19T>G
NM_138691.3(TMC1):c.884+9C>T
NM_138691.3(TMC1):c.885-11T>A
NM_138691.3(TMC1):c.885-17A>G
NM_138691.3(TMC1):c.885-8T>G
NM_138691.3(TMC1):c.885-9T>C
NM_138691.3(TMC1):c.897C>T (p.Asn299=)
NM_138691.3(TMC1):c.903_904dup (p.Asp302fs)
NM_138691.3(TMC1):c.916G>A (p.Gly306Arg) rs2118177925
NM_138691.3(TMC1):c.920A>G (p.Asp307Gly)
NM_138691.3(TMC1):c.924C>T (p.Asp308=)
NM_138691.3(TMC1):c.927C>T (p.Asn309=)
NM_138691.3(TMC1):c.932T>A (p.Phe311Tyr)
NM_138691.3(TMC1):c.932dup (p.Asn312fs)
NM_138691.3(TMC1):c.933C>T (p.Phe311=)
NM_138691.3(TMC1):c.935A>G (p.Asn312Ser)
NM_138691.3(TMC1):c.942C>T (p.Ser314=)
NM_138691.3(TMC1):c.94C>T (p.Leu32=)
NM_138691.3(TMC1):c.960C>A (p.Ser320Arg)
NM_138691.3(TMC1):c.975C>T (p.Ile325=)
NM_138691.3(TMC1):c.991G>A (p.Ala331Thr) rs1470897776
NM_138691.3(TMC1):c.9C>T (p.Pro3=)

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