ClinVar Miner

List of variants in gene POMT2 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 351
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_013382.7(POMT2):c.1484+95A>G rs3815625 0.83173
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_013382.7(POMT2):c.1653+83A>C rs2216089 0.52503
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_013382.7(POMT2):c.1007-256G>A rs3783986 0.40868
NM_013382.7(POMT2):c.547+201T>C rs3815626 0.33147
NM_013382.7(POMT2):c.1654-217A>G rs2098380 0.33145
NM_013382.7(POMT2):c.1891+54A>G rs11625197 0.24467
NM_013382.7(POMT2):c.816+51T>C rs2287392 0.23118
NM_013382.7(POMT2):c.1006+261C>T rs2287388 0.23064
NM_013382.7(POMT2):c.817-121C>T rs2287389 0.23004
NM_013382.7(POMT2):c.817-123T>C rs2287390 0.22985
NM_013382.7(POMT2):c.1892-164C>T rs61990291 0.22317
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12674
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_013382.7(POMT2):c.1006+212A>G rs73311328 0.10956
NM_013382.7(POMT2):c.1653+266C>T rs7159378 0.10883
NM_013382.7(POMT2):c.1007-282T>C rs55687913 0.08644
NM_013382.7(POMT2):c.1116+165C>T rs67600987 0.08617
NM_013382.7(POMT2):c.334-45T>C rs66502123 0.08383
NM_013382.7(POMT2):c.249-109A>G rs61442105 0.06033
NM_013382.7(POMT2):c.1484+136T>C rs58212324 0.05768
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.1007-346G>A rs75809249 0.05373
NM_013382.7(POMT2):c.438+81C>T rs3815627 0.05217
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_013382.7(POMT2):c.2147+147G>A rs60626204 0.04243
NM_013382.7(POMT2):c.248+108C>A rs11629257 0.04110
NM_013382.7(POMT2):c.1184-152C>T rs76350342 0.03884
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.1576+55C>T rs78002771 0.02868
NM_013382.7(POMT2):c.438+267A>G rs78314442 0.02744
NM_013382.7(POMT2):c.438+288G>C rs12433986 0.02707
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.02044
NM_013382.7(POMT2):c.548-77C>G rs149929369 0.01998
NM_013382.7(POMT2):c.*1337C>T rs45561437 0.01861
NM_013382.7(POMT2):c.1653+129C>T rs17105658 0.01823
NM_013382.7(POMT2):c.1116+35A>G rs2302831 0.01815
NM_013382.7(POMT2):c.1184-288T>C rs142996120 0.01779
NM_013382.7(POMT2):c.333+188A>C rs117335938 0.01695
NM_013382.7(POMT2):c.1007-88A>G rs74065604 0.01692
NM_013382.7(POMT2):c.923+341A>G rs59556316 0.01637
NM_013382.7(POMT2):c.1654-41G>C rs71413457 0.01621
NM_013382.7(POMT2):c.657-144C>T rs117741019 0.01427
NM_013382.7(POMT2):c.1786-43A>C rs74062792 0.01104
NM_013382.7(POMT2):c.439-93G>A rs113610213 0.00673
NM_013382.7(POMT2):c.1007-56C>T rs142209688 0.00671
NM_013382.7(POMT2):c.1116+267G>A rs149680753 0.00669
NM_013382.7(POMT2):c.817-105A>G rs114477078 0.00667
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_013382.7(POMT2):c.548-280G>A rs115364957 0.00594
NM_013382.7(POMT2):c.1725+51G>C rs78688981 0.00564
NM_013382.7(POMT2):c.1183+67A>G rs145363560 0.00539
NM_013382.7(POMT2):c.923+164T>C rs75798179 0.00523
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_013382.7(POMT2):c.248+325T>G rs8177534 0.00479
NM_013382.7(POMT2):c.1653+38G>A rs142649005 0.00359
NM_013382.7(POMT2):c.548-153C>T rs192494914 0.00352
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_013382.7(POMT2):c.1485-74G>C rs536974030 0.00324
NM_013382.7(POMT2):c.548-300G>A rs537871086 0.00323
NM_013382.7(POMT2):c.439-45C>T rs146792467 0.00314
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) rs368034790 0.00022
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) rs199743727 0.00016
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_013382.7(POMT2):c.656+3C>G rs561052172 0.00015
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) rs550420394 0.00013
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_013382.7(POMT2):c.1889C>T (p.Ala630Val) rs752214239 0.00012
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp) rs398124261 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.2056C>T (p.Arg686Trp) rs727502859 0.00010
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) rs369489033 0.00008
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) rs780976004 0.00008
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) rs567557121 0.00008
NM_013382.7(POMT2):c.1552G>A (p.Val518Met) rs200762716 0.00007
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) rs763119319 0.00006
NM_013382.7(POMT2):c.1485-3C>T rs754892193 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) rs551885065 0.00005
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1081C>T (p.Leu361Phe) rs771509741 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) rs375840897 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00004
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) rs148466370 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) rs779390236 0.00004
NM_013382.7(POMT2):c.61T>C (p.Cys21Arg) rs767316912 0.00004
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) rs373139592 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.1006+1G>A rs533916138 0.00003
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) rs973161535 0.00003
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.2072G>T (p.Gly691Val) rs758678348 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) rs765103940 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1192G>C (p.Asp398His) rs145933402 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln) rs757110456 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) rs751153662 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00002
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) rs746640722 0.00002
NM_013382.7(POMT2):c.2075T>C (p.Leu692Ser) rs1361876642 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu) rs750346960 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) rs779053591 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.106G>C (p.Glu36Gln) rs974410008 0.00001
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1090G>A (p.Glu364Lys) rs772255938 0.00001
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) rs139830891 0.00001
NM_013382.7(POMT2):c.1116+4A>G rs779844724 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.124C>T (p.Pro42Ser) rs1350511523 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+14G>A rs750144868 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1418G>A (p.Arg473Gln) rs1279458453 0.00001
NM_013382.7(POMT2):c.1451T>C (p.Val484Ala) rs761917543 0.00001
NM_013382.7(POMT2):c.1528G>A (p.Glu510Lys) rs186872560 0.00001
NM_013382.7(POMT2):c.1681A>G (p.Asn561Asp) rs1006561976 0.00001
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser) rs727502858 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1835G>T (p.Gly612Val) rs772405371 0.00001
NM_013382.7(POMT2):c.1843A>G (p.Ile615Val) rs762148813 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.1875G>T (p.Leu625=) rs1486213644 0.00001
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) rs1262591820 0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) rs119463989 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2085G>T (p.Trp695Cys) rs398124263 0.00001
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) rs746221148 0.00001
NM_013382.7(POMT2):c.2147+9C>T rs1253447533 0.00001
NM_013382.7(POMT2):c.248+2T>C rs1326631351 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) rs778898705 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) rs267606972 0.00001
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) rs886043765 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) rs764878423 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.733G>A (p.Val245Ile) rs765784041 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.829A>G (p.Lys277Glu) rs886042829 0.00001
NM_013382.7(POMT2):c.845G>A (p.Arg282His) rs756132642 0.00001
NM_013382.7(POMT2):c.84C>T (p.Ala28=) rs771031903 0.00001
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) rs775548781 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NC_000014.9:g.77285487G>A rs727503874
NM_013382.7(POMT2):c.*2151A>G rs45579739
NM_013382.7(POMT2):c.*2369dup rs113216374
NM_013382.7(POMT2):c.1006+10T>C
NM_013382.7(POMT2):c.1006+148C>T rs7143099
NM_013382.7(POMT2):c.1006+1del rs1064796019
NM_013382.7(POMT2):c.1007-331_1007-329dup rs3837647
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1045_1052delinsG (p.Arg349fs) rs886042094
NM_013382.7(POMT2):c.1116+243T>G rs11627257
NM_013382.7(POMT2):c.1117-19G>C rs201897018
NM_013382.7(POMT2):c.1117-1G>C
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.7(POMT2):c.1159del (p.Ile387fs)
NM_013382.7(POMT2):c.1174A>T (p.Thr392Ser)
NM_013382.7(POMT2):c.1183+257_1183+260del rs3214405
NM_013382.7(POMT2):c.1184-292C>G rs552414765
NM_013382.7(POMT2):c.1184-4_1184-3delinsTT rs2140195555
NM_013382.7(POMT2):c.1187C>T (p.Pro396Leu)
NM_013382.7(POMT2):c.1213_1228del (p.Phe405fs)
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1246C>T (p.His416Tyr)
NM_013382.7(POMT2):c.124C>G (p.Pro42Ala) rs1350511523
NM_013382.7(POMT2):c.129_131del (p.Arg44del)
NM_013382.7(POMT2):c.1306C>T (p.His436Tyr) rs779571965
NM_013382.7(POMT2):c.1312C>T (p.Gln438Ter) rs995812794
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.1384A>G (p.Lys462Glu)
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.1455G>A (p.Leu485=)
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1484+1G>T rs727502857
NM_013382.7(POMT2):c.1510T>G (p.Cys504Gly) rs763308182
NM_013382.7(POMT2):c.1558G>A (p.Asp520Asn) rs886043915
NM_013382.7(POMT2):c.1568A>C (p.Asn523Thr) rs886042386
NM_013382.7(POMT2):c.1574A>G (p.Lys525Arg)
NM_013382.7(POMT2):c.1577-3del rs1890321007
NM_013382.7(POMT2):c.1603del (p.Gln535fs) rs786205625
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) rs147882035
NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)
NM_013382.7(POMT2):c.1645A>T (p.Met549Leu) rs1555352401
NM_013382.7(POMT2):c.1652G>A (p.Arg551Gln)
NM_013382.7(POMT2):c.1653+1G>A
NM_013382.7(POMT2):c.1653+3A>T
NM_013382.7(POMT2):c.1654-248_1654-242dup rs112591735
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) rs886043110
NM_013382.7(POMT2):c.1672C>T (p.Pro558Ser)
NM_013382.7(POMT2):c.169T>G (p.Trp57Gly) rs1566666666
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1721A>T (p.Tyr574Phe) rs142870987
NM_013382.7(POMT2):c.1725+117G>C rs151254680
NM_013382.7(POMT2):c.1726-2A>G rs727503873
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1754C>T (p.Thr585Ile) rs797019891
NM_013382.7(POMT2):c.1757A>G (p.Asp586Gly) rs1566644193
NM_013382.7(POMT2):c.1763G>A (p.Arg588Gln)
NM_013382.7(POMT2):c.1764_1765del (p.Val589fs) rs1555351889
NM_013382.7(POMT2):c.1784C>T (p.Pro595Leu)
NM_013382.7(POMT2):c.1785G>C (p.Pro595=) rs202237807
NM_013382.7(POMT2):c.1805T>C (p.Leu602Pro) rs1566643981
NM_013382.7(POMT2):c.1828C>T (p.Leu610Phe) rs1555351859
NM_013382.7(POMT2):c.1849G>A (p.Val617Ile)
NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs) rs1555351849
NM_013382.7(POMT2):c.1891+220C>T
NM_013382.7(POMT2):c.1895T>C (p.Leu632Ser) rs398124262
NM_013382.7(POMT2):c.1921G>A (p.Gly641Ser)
NM_013382.7(POMT2):c.1933C>T (p.Leu645Phe)
NM_013382.7(POMT2):c.1940G>A (p.Trp647Ter) rs2140162237
NM_013382.7(POMT2):c.1943C>T (p.Thr648Ile)
NM_013382.7(POMT2):c.1946T>G (p.Leu649Arg)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2030C>A (p.Thr677Lys) rs2140161863
NM_013382.7(POMT2):c.2078C>A (p.Ala693Asp)
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) rs139308429
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) rs1566642523
NM_013382.7(POMT2):c.2086C>T (p.Pro696Ser) rs76700503
NM_013382.7(POMT2):c.2092G>C (p.Ala698Pro) rs1434643039
NM_013382.7(POMT2):c.2107G>C (p.Val703Leu) rs1183341063
NM_013382.7(POMT2):c.2114G>A (p.Gly705Glu)
NM_013382.7(POMT2):c.2147+2T>G rs1555351620
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2197del (p.Gln733fs) rs1292248431
NM_013382.7(POMT2):c.2206del (p.Gln736fs) rs774412117
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) rs554801559
NM_013382.7(POMT2):c.222C>G (p.His74Gln) rs1474905955
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) rs1200964688
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.244A>G (p.Ile82Val)
NM_013382.7(POMT2):c.248+151G>A rs8177535
NM_013382.7(POMT2):c.293A>C (p.Asn98Thr) rs368034790
NM_013382.7(POMT2):c.305T>C (p.Phe102Ser)
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.333+1G>A
NM_013382.7(POMT2):c.334-35G>C rs199713056
NM_013382.7(POMT2):c.438+159A>T rs79436695
NM_013382.7(POMT2):c.438+82G>T rs570180158
NM_013382.7(POMT2):c.451C>T (p.Leu151Phe)
NM_013382.7(POMT2):c.462G>A (p.Trp154Ter) rs1085307985
NM_013382.7(POMT2):c.46C>T (p.Pro16Ser) rs747944127
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) rs753326186
NM_013382.7(POMT2):c.542C>A (p.Thr181Asn) rs1566657958
NM_013382.7(POMT2):c.550_552del (p.Thr184del)
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.579C>T (p.Ile193=)
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) rs1200584567
NM_013382.7(POMT2):c.620T>C (p.Met207Thr) rs1326409250
NM_013382.7(POMT2):c.632T>A (p.Val211Asp)
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) rs1594797659
NM_013382.7(POMT2):c.643T>C (p.Ser215Pro) rs794727722
NM_013382.7(POMT2):c.645T>G (p.Ser215=)
NM_013382.7(POMT2):c.652G>T (p.Asp218Tyr)
NM_013382.7(POMT2):c.654C>T (p.Asp218=)
NM_013382.7(POMT2):c.656+136dup rs3217186
NM_013382.7(POMT2):c.740T>A (p.Leu247His)
NM_013382.7(POMT2):c.762G>A (p.Gly254=)
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) rs765276419
NM_013382.7(POMT2):c.816+257_816+258dup rs748794664
NM_013382.7(POMT2):c.816+257dup rs748794664
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.869C>T (p.Pro290Leu)
NM_013382.7(POMT2):c.86C>G (p.Ala29Gly)
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) rs794727871
NM_013382.7(POMT2):c.923+184del rs560112742
NM_013382.7(POMT2):c.924-2A>C rs886044256
NM_013382.7(POMT2):c.924-2A>G rs886044256
NM_013382.7(POMT2):c.964C>G (p.Arg322Gly) rs746422226
NM_013382.7(POMT2):c.965G>A (p.Arg322Gln)
NM_013382.7(POMT2):c.971C>T (p.Ser324Leu)

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