ClinVar Miner

List of variants in gene POMT2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 541
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14051
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12941
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04092
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.02889
NM_013382.7(POMT2):c.438+288G>C rs12433986 0.02707
NM_013382.7(POMT2):c.*1337C>T rs45561437 0.02005
NM_013382.7(POMT2):c.548-77C>G rs149929369 0.01998
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.01981
NM_013382.7(POMT2):c.1116+35A>G rs2302831 0.01958
NM_013382.7(POMT2):c.1653+129C>T rs17105658 0.01823
NM_013382.7(POMT2):c.1184-288T>C rs142996120 0.01779
NM_013382.7(POMT2):c.333+188A>C rs117335938 0.01629
NM_013382.7(POMT2):c.657-144C>T rs117741019 0.01372
NM_013382.7(POMT2):c.1786-43A>C rs74062792 0.01020
NM_013382.7(POMT2):c.*2091G>T rs139493728 0.00752
NM_013382.7(POMT2):c.*1756C>T rs148688355 0.00746
NM_013382.7(POMT2):c.439-93G>A rs113610213 0.00673
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.1007-56C>T rs142209688 0.00613
NM_013382.7(POMT2):c.548-280G>A rs115364957 0.00594
NM_013382.7(POMT2):c.1725+51G>C rs78688981 0.00570
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00565
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 0.00438
NM_013382.7(POMT2):c.1653+38G>A rs142649005 0.00363
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.439-45C>T rs146792467 0.00314
NM_013382.7(POMT2):c.1485-74G>C rs536974030 0.00303
NM_013382.7(POMT2):c.548-300G>A rs537871086 0.00302
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00204
NM_013382.7(POMT2):c.1891+220C>T rs549021556 0.00194
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00152
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00078
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.1903G>A (p.Val635Ile) rs142299878 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00058
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.1725+117G>C rs151254680 0.00054
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.1786-18A>G rs193173216 0.00038
NM_013382.7(POMT2):c.2148-17C>G rs201328470 0.00038
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00028
NM_013382.7(POMT2):c.1195C>T (p.Pro399Ser) rs200821647 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00023
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) rs138142899 0.00016
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00015
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00015
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00011
NM_013382.7(POMT2):c.1089C>T (p.Pro363=) rs540688610 0.00010
NM_013382.7(POMT2):c.657-18C>T rs759654244 0.00010
NM_013382.7(POMT2):c.1333-13G>C rs755487607 0.00009
NM_013382.7(POMT2):c.1786-12A>G rs537415359 0.00009
NM_013382.7(POMT2):c.2033-16C>T rs1004073852 0.00009
NM_013382.7(POMT2):c.439-16T>C rs747572959 0.00008
NM_013382.7(POMT2):c.1887T>G (p.Val629=) rs145942005 0.00007
NM_013382.7(POMT2):c.1484+17T>C rs769039137 0.00006
NM_013382.7(POMT2):c.1726-8T>C rs764878921 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1785+20C>T rs371727483 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) rs548359755 0.00006
NM_013382.7(POMT2):c.936C>T (p.Asp312=) rs186690580 0.00006
NM_013382.7(POMT2):c.2032+7G>C rs371121278 0.00005
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.2148-15G>C rs777010788 0.00005
NM_013382.7(POMT2):c.339G>A (p.Leu113=) rs907279495 0.00005
NM_013382.7(POMT2):c.656+18C>T rs777753083 0.00005
NM_013382.7(POMT2):c.656+9C>G rs1013621171 0.00005
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) rs764015186 0.00005
NM_013382.7(POMT2):c.923+19C>A rs768985428 0.00005
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) rs751776398 0.00004
NM_013382.7(POMT2):c.816+14G>C rs776598705 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.817-19C>T rs202191456 0.00004
NM_013382.7(POMT2):c.1007-20G>A rs376968799 0.00003
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00003
NM_013382.7(POMT2):c.1117-19G>A rs201897018 0.00003
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1320C>T (p.Thr440=) rs143342682 0.00003
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00003
NM_013382.7(POMT2):c.1725+4G>A rs758851815 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1776T>G (p.Leu592=) rs893166390 0.00003
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) rs760608239 0.00003
NM_013382.7(POMT2):c.2040G>A (p.Leu680=) rs951171938 0.00003
NM_013382.7(POMT2):c.2058G>T (p.Arg686=) rs751651828 0.00003
NM_013382.7(POMT2):c.2148-14G>A rs923000813 0.00003
NM_013382.7(POMT2):c.2148-20C>T rs372493007 0.00003
NM_013382.7(POMT2):c.2148-6T>A rs1242617887 0.00003
NM_013382.7(POMT2):c.552G>A (p.Thr184=) rs562425016 0.00003
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.816+8C>T rs187166139 0.00003
NM_013382.7(POMT2):c.924-4A>G rs752607741 0.00003
NM_013382.7(POMT2):c.1029C>T (p.Ile343=) rs758645178 0.00002
NM_013382.7(POMT2):c.1032T>C (p.Thr344=) rs748370238 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1786-5C>G rs369026034 0.00002
NM_013382.7(POMT2):c.1803T>C (p.Asn601=) rs145557452 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.2032+8C>T rs368108828 0.00002
NM_013382.7(POMT2):c.248+9T>C rs754261430 0.00002
NM_013382.7(POMT2):c.548-17G>A rs775177109 0.00002
NM_013382.7(POMT2):c.548-18C>T rs762471841 0.00002
NM_013382.7(POMT2):c.656+19G>A rs1383085703 0.00002
NM_013382.7(POMT2):c.657-17G>A rs776812254 0.00002
NM_013382.7(POMT2):c.814T>C (p.Leu272=) rs558198190 0.00002
NM_013382.7(POMT2):c.870C>T (p.Pro290=) rs1003348896 0.00002
NM_013382.7(POMT2):c.1006+9C>T rs2503262029 0.00001
NM_013382.7(POMT2):c.1007-13C>G rs746271950 0.00001
NM_013382.7(POMT2):c.1044C>T (p.Leu348=) rs267604062 0.00001
NM_013382.7(POMT2):c.1056C>T (p.Ile352=) rs767042535 0.00001
NM_013382.7(POMT2):c.1074C>T (p.His358=) rs759944762 0.00001
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1116+10C>T rs546843743 0.00001
NM_013382.7(POMT2):c.1117-7C>T rs201921627 0.00001
NM_013382.7(POMT2):c.1184-11C>G rs1890537759 0.00001
NM_013382.7(POMT2):c.1184-14T>C rs199871120 0.00001
NM_013382.7(POMT2):c.1254-7C>T rs753987994 0.00001
NM_013382.7(POMT2):c.1272C>T (p.His424=) rs1328987547 0.00001
NM_013382.7(POMT2):c.1332+14G>A rs750144868 0.00001
NM_013382.7(POMT2):c.1332+17G>A rs761744826 0.00001
NM_013382.7(POMT2):c.1332+19T>G rs1057522317 0.00001
NM_013382.7(POMT2):c.1374C>T (p.Val458=) rs751407642 0.00001
NM_013382.7(POMT2):c.138T>C (p.Ala46=) rs1891844395 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1410G>A (p.Leu470=) rs1890394018 0.00001
NM_013382.7(POMT2):c.1452C>T (p.Val484=) rs1890391962 0.00001
NM_013382.7(POMT2):c.1453C>T (p.Leu485=) rs757570246 0.00001
NM_013382.7(POMT2):c.1484+13G>A rs772891000 0.00001
NM_013382.7(POMT2):c.1484+14G>A rs1263576526 0.00001
NM_013382.7(POMT2):c.1484+9C>G rs760349322 0.00001
NM_013382.7(POMT2):c.1518A>G (p.Pro506=) rs1380319239 0.00001
NM_013382.7(POMT2):c.1536C>T (p.Leu512=) rs771117215 0.00001
NM_013382.7(POMT2):c.1576+14C>T rs1237291743 0.00001
NM_013382.7(POMT2):c.1576+20G>A rs753068564 0.00001
NM_013382.7(POMT2):c.1577-7C>T rs1890321110 0.00001
NM_013382.7(POMT2):c.1653+14T>C rs1890314725 0.00001
NM_013382.7(POMT2):c.1654-11C>T rs758138633 0.00001
NM_013382.7(POMT2):c.1659C>T (p.Asn553=) rs534663839 0.00001
NM_013382.7(POMT2):c.1725+14C>G rs200237748 0.00001
NM_013382.7(POMT2):c.1725+15T>C rs751596850 0.00001
NM_013382.7(POMT2):c.1726-15G>C rs1057524013 0.00001
NM_013382.7(POMT2):c.177C>T (p.Ala59=) rs761956817 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.1800G>T (p.Leu600=) rs757165656 0.00001
NM_013382.7(POMT2):c.180G>C (p.Leu60=) rs1445911982 0.00001
NM_013382.7(POMT2):c.1815C>T (p.Ile605=) rs752162387 0.00001
NM_013382.7(POMT2):c.181C>T (p.Leu61=) rs774150334 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1873C>T (p.Leu625=) rs1393855564 0.00001
NM_013382.7(POMT2):c.1875G>T (p.Leu625=) rs1486213644 0.00001
NM_013382.7(POMT2):c.1891+16C>T rs1020072457 0.00001
NM_013382.7(POMT2):c.1892-16T>C rs1241829973 0.00001
NM_013382.7(POMT2):c.1959G>A (p.Pro653=) rs775222771 0.00001
NM_013382.7(POMT2):c.196C>T (p.Leu66=) rs528060377 0.00001
NM_013382.7(POMT2):c.1986C>T (p.Tyr662=) rs368529489 0.00001
NM_013382.7(POMT2):c.2004A>C (p.Pro668=) rs750930174 0.00001
NM_013382.7(POMT2):c.2032+19G>A rs1300533131 0.00001
NM_013382.7(POMT2):c.2033-18T>C rs1017007798 0.00001
NM_013382.7(POMT2):c.2033-20G>A rs1057524128 0.00001
NM_013382.7(POMT2):c.2046C>T (p.Asp682=) rs746369367 0.00001
NM_013382.7(POMT2):c.2049C>T (p.Thr683=) rs1466364673 0.00001
NM_013382.7(POMT2):c.2055G>A (p.Leu685=) rs1247412791 0.00001
NM_013382.7(POMT2):c.2100C>A (p.Gly700=) rs905496812 0.00001
NM_013382.7(POMT2):c.2121G>C (p.Leu707=) rs1890061799 0.00001
NM_013382.7(POMT2):c.2130C>T (p.Leu710=) rs150438588 0.00001
NM_013382.7(POMT2):c.2145C>T (p.Tyr715=) rs1338507135 0.00001
NM_013382.7(POMT2):c.2147+14C>T rs1482415237 0.00001
NM_013382.7(POMT2):c.216C>T (p.Arg72=) rs1891833559 0.00001
NM_013382.7(POMT2):c.2250T>C (p.Phe750=) rs1890006083 0.00001
NM_013382.7(POMT2):c.240G>A (p.Pro80=) rs1346021636 0.00001
NM_013382.7(POMT2):c.258G>A (p.Glu86=) rs956763108 0.00001
NM_013382.7(POMT2):c.297T>C (p.Arg99=) rs777278899 0.00001
NM_013382.7(POMT2):c.324C>T (p.Pro108=) rs367708173 0.00001
NM_013382.7(POMT2):c.438+12T>A rs2139500656 0.00001
NM_013382.7(POMT2):c.438+16T>G rs1234122482 0.00001
NM_013382.7(POMT2):c.439-6C>T rs758521277 0.00001
NM_013382.7(POMT2):c.439-9C>T rs777960032 0.00001
NM_013382.7(POMT2):c.447A>G (p.Ala149=) rs377323321 0.00001
NM_013382.7(POMT2):c.471C>T (p.Pro157=) rs755235327 0.00001
NM_013382.7(POMT2):c.480C>T (p.Tyr160=) rs1202494830 0.00001
NM_013382.7(POMT2):c.486T>C (p.Thr162=) rs766222032 0.00001
NM_013382.7(POMT2):c.513G>A (p.Ser171=) rs751296728 0.00001
NM_013382.7(POMT2):c.547+17A>G rs1485846490 0.00001
NM_013382.7(POMT2):c.548-12C>T rs773717014 0.00001
NM_013382.7(POMT2):c.548-16A>G rs1424103519 0.00001
NM_013382.7(POMT2):c.591C>T (p.Pro197=) rs780975762 0.00001
NM_013382.7(POMT2):c.60C>A (p.Arg20=) rs947253033 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.636G>A (p.Lys212=) rs368906346 0.00001
NM_013382.7(POMT2):c.645T>C (p.Ser215=) rs768027012 0.00001
NM_013382.7(POMT2):c.657-15C>T rs571706805 0.00001
NM_013382.7(POMT2):c.657-9G>C rs1359971151 0.00001
NM_013382.7(POMT2):c.69C>T (p.Pro23=) rs527728447 0.00001
NM_013382.7(POMT2):c.741C>G (p.Leu247=) rs1891023439 0.00001
NM_013382.7(POMT2):c.762G>T (p.Gly254=) rs1457542706 0.00001
NM_013382.7(POMT2):c.774T>C (p.Ile258=) rs748022643 0.00001
NM_013382.7(POMT2):c.816+13G>A rs1283872799 0.00001
NM_013382.7(POMT2):c.817-20A>G rs1566655273 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.846T>A (p.Arg282=) rs750579071 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.924-5C>G rs570851802 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.924-7C>T rs112652375 0.00001
NM_013382.7(POMT2):c.927C>T (p.Gly309=) rs1201482559 0.00001
NM_013382.7(POMT2):c.*1893G>A rs114623446
NM_013382.7(POMT2):c.1006+16C>G rs2503261982
NM_013382.7(POMT2):c.1007-11C>G rs1467586753
NM_013382.7(POMT2):c.1007-12C>T rs1378689108
NM_013382.7(POMT2):c.1007-15C>T rs1890827503
NM_013382.7(POMT2):c.1007-17G>C rs558306301
NM_013382.7(POMT2):c.1007-20G>T rs376968799
NM_013382.7(POMT2):c.1007-9T>G rs2503251631
NM_013382.7(POMT2):c.1009C>T (p.Leu337=) rs777184206
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1071C>G (p.Ser357=) rs1271261455
NM_013382.7(POMT2):c.1077G>A (p.Arg359=) rs2503250759
NM_013382.7(POMT2):c.1110G>A (p.Gln370=) rs749051061
NM_013382.7(POMT2):c.1116+10C>A
NM_013382.7(POMT2):c.1116+17T>C rs2503250273
NM_013382.7(POMT2):c.1116+8A>C rs2503250342
NM_013382.7(POMT2):c.1117-11C>T rs769558855
NM_013382.7(POMT2):c.1117-12C>A rs535647699
NM_013382.7(POMT2):c.1117-12C>T rs535647699
NM_013382.7(POMT2):c.1117-14C>A rs761884608
NM_013382.7(POMT2):c.1117-14C>T
NM_013382.7(POMT2):c.1117-16CCCACCC[3] rs1890635589
NM_013382.7(POMT2):c.1117-17C>G rs1890637280
NM_013382.7(POMT2):c.1117-19G>C rs201897018
NM_013382.7(POMT2):c.1117-19G>T rs201897018
NM_013382.7(POMT2):c.1117-7C>A rs201921627
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1119C>T (p.Val373=) rs2140203915
NM_013382.7(POMT2):c.1137G>A (p.Lys379=) rs2503227221
NM_013382.7(POMT2):c.1150C>T (p.Leu384=) rs750820424
NM_013382.7(POMT2):c.1179C>T (p.Asn393=) rs774447896
NM_013382.7(POMT2):c.1183+11C>T rs2503226608
NM_013382.7(POMT2):c.1183+13G>A rs2140203548
NM_013382.7(POMT2):c.1183+257_1183+260del rs3214405
NM_013382.7(POMT2):c.1184-12T>A rs2503215659
NM_013382.7(POMT2):c.1184-19G>C rs1383782520
NM_013382.7(POMT2):c.1184-292C>G rs552414765
NM_013382.7(POMT2):c.1184-5G>T rs2503215632
NM_013382.7(POMT2):c.1206A>G (p.Pro402=) rs142479943
NM_013382.7(POMT2):c.1221A>G (p.Arg407=) rs1594787171
NM_013382.7(POMT2):c.1239A>C (p.Arg413=) rs2503215124
NM_013382.7(POMT2):c.1253+13G>T rs768380346
NM_013382.7(POMT2):c.1253+16del rs1890531247
NM_013382.7(POMT2):c.1254-13_1254-12del rs2140188664
NM_013382.7(POMT2):c.1254-16C>G rs2503203874
NM_013382.7(POMT2):c.1254-6T>G rs2503203808
NM_013382.7(POMT2):c.1254-9A>G rs1594890973
NM_013382.7(POMT2):c.1257T>G (p.Thr419=)
NM_013382.7(POMT2):c.1261C>A (p.Arg421=) rs727502855
NM_013382.7(POMT2):c.1293C>T (p.Pro431=) rs2503203370
NM_013382.7(POMT2):c.130C>A (p.Arg44=) rs2139551017
NM_013382.7(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.7(POMT2):c.1332+10C>A rs1242166420
NM_013382.7(POMT2):c.1332+10del rs2503202683
NM_013382.7(POMT2):c.1332+10dup
NM_013382.7(POMT2):c.1332+12A>G rs2503202644
NM_013382.7(POMT2):c.1332+19T>C rs1057522317
NM_013382.7(POMT2):c.1332+20G>A rs774415735
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1333-12C>T
NM_013382.7(POMT2):c.1333-16T>C rs2503198181
NM_013382.7(POMT2):c.1333-17C>A rs2503198194
NM_013382.7(POMT2):c.1333-6T>C rs780212814
NM_013382.7(POMT2):c.1350A>T (p.Ser450=) rs750632019
NM_013382.7(POMT2):c.135T>A (p.Pro45=) rs1891844737
NM_013382.7(POMT2):c.1371G>A (p.Glu457=) rs1224327535
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.1408C>T (p.Leu470=) rs886038599
NM_013382.7(POMT2):c.1461C>T (p.Ser487=) rs1171355781
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1464G>T (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1479C>T (p.Pro493=) rs769462000
NM_013382.7(POMT2):c.1482G>A (p.Lys494=) rs1201099459
NM_013382.7(POMT2):c.1484+19G>T rs2503196323
NM_013382.7(POMT2):c.1484+7C>T rs1890389136
NM_013382.7(POMT2):c.1485-14T>C rs2503193602
NM_013382.7(POMT2):c.1485-20G>A rs1890371346
NM_013382.7(POMT2):c.1494G>A (p.Glu498=) rs1890369713
NM_013382.7(POMT2):c.149G>A (p.Arg50Gln)
NM_013382.7(POMT2):c.1512C>T (p.Cys504=) rs775728269
NM_013382.7(POMT2):c.1527A>G (p.Lys509=) rs2503193049
NM_013382.7(POMT2):c.1539C>T (p.Asn513=) rs1210363521
NM_013382.7(POMT2):c.153C>T (p.Arg51=) rs1566666702
NM_013382.7(POMT2):c.1576+13A>G rs2503192462
NM_013382.7(POMT2):c.1577-19C>T rs2140179800
NM_013382.7(POMT2):c.1577-20C>G
NM_013382.7(POMT2):c.1577-3del rs1890321007
NM_013382.7(POMT2):c.1577-8T>C rs1203634380
NM_013382.7(POMT2):c.1577-8del rs749856419
NM_013382.7(POMT2):c.1593G>C (p.Leu531=) rs147934334
NM_013382.7(POMT2):c.1599G>A (p.Val533=) rs768426838
NM_013382.7(POMT2):c.162G>C (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1635C>T (p.Ser545=) rs2503185982
NM_013382.7(POMT2):c.1638C>T (p.His546=) rs2140179482
NM_013382.7(POMT2):c.1653+10C>T rs2503185647
NM_013382.7(POMT2):c.1653+11C>A rs2503185640
NM_013382.7(POMT2):c.1653+17C>T rs1268392742
NM_013382.7(POMT2):c.1653+20T>G rs2503185570
NM_013382.7(POMT2):c.1654-12A>G rs1452608532
NM_013382.7(POMT2):c.1654-13T>C
NM_013382.7(POMT2):c.1654-15G>C rs2503171677
NM_013382.7(POMT2):c.1654-4G>T
NM_013382.7(POMT2):c.1654-5T>C rs1594885955
NM_013382.7(POMT2):c.1654-6A>C rs4540995
NM_013382.7(POMT2):c.1654-7C>A rs578133776
NM_013382.7(POMT2):c.1668C>G (p.Leu556=) rs2503171319
NM_013382.7(POMT2):c.1671A>G (p.Lys557=) rs2503171294
NM_013382.7(POMT2):c.1674C>T (p.Pro558=) rs2503171231
NM_013382.7(POMT2):c.1689C>T (p.Phe563=)
NM_013382.7(POMT2):c.168C>T (p.Gly56=) rs2139550502
NM_013382.7(POMT2):c.1713T>C (p.Pro571=) rs1187537322
NM_013382.7(POMT2):c.1725+11A>G rs2503170549
NM_013382.7(POMT2):c.1725+17G>A rs2503170485
NM_013382.7(POMT2):c.1725+18G>C rs764130859
NM_013382.7(POMT2):c.1725+19G>A rs1240205405
NM_013382.7(POMT2):c.1725+8C>G rs2503170589
NM_013382.7(POMT2):c.1726-11C>G rs757599704
NM_013382.7(POMT2):c.1726-11C>T rs757599704
NM_013382.7(POMT2):c.1726-15G>A
NM_013382.7(POMT2):c.1726-19G>T rs530158780
NM_013382.7(POMT2):c.1726-20G>A rs2503167617
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1734C>T (p.Arg578=)
NM_013382.7(POMT2):c.1740A>C (p.Ser580=) rs1406093258
NM_013382.7(POMT2):c.1746C>A (p.Val582=) rs2503167072
NM_013382.7(POMT2):c.1749T>C (p.Asn583=) rs1416940075
NM_013382.7(POMT2):c.1767C>G (p.Val589=) rs2503166836
NM_013382.7(POMT2):c.1782C>T (p.Asn594=) rs2503166638
NM_013382.7(POMT2):c.1785+15A>G rs373815491
NM_013382.7(POMT2):c.1785+17T>G rs2503166365
NM_013382.7(POMT2):c.1785+6dup rs2503166522
NM_013382.7(POMT2):c.1785+7G>A rs775057027
NM_013382.7(POMT2):c.1785+8C>T rs2503166462
NM_013382.7(POMT2):c.1786-15C>G rs772531568
NM_013382.7(POMT2):c.1786-4A>G rs768773740
NM_013382.7(POMT2):c.1786-7T>C rs2503165537
NM_013382.7(POMT2):c.1800G>C (p.Leu600=) rs757165656
NM_013382.7(POMT2):c.1818C>T (p.Ala606=) rs1890145582
NM_013382.7(POMT2):c.1839C>T (p.Ser613=) rs1400122508
NM_013382.7(POMT2):c.1848T>C (p.Ala616=)
NM_013382.7(POMT2):c.1851A>G (p.Val617=)
NM_013382.7(POMT2):c.1854C>G (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1854C>T (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1872G>A (p.Arg624=)
NM_013382.7(POMT2):c.1875G>C (p.Leu625=) rs1486213644
NM_013382.7(POMT2):c.1891+12T>G rs1178482518
NM_013382.7(POMT2):c.1891+13G>A rs2140166262
NM_013382.7(POMT2):c.1891+14G>A rs764700561
NM_013382.7(POMT2):c.1891+15G>T rs1161543290
NM_013382.7(POMT2):c.1892-14C>G rs1296934949
NM_013382.7(POMT2):c.1892-15G>A rs2503156604
NM_013382.7(POMT2):c.1892-17G>A
NM_013382.7(POMT2):c.1892-5C>T rs2503156536
NM_013382.7(POMT2):c.1902G>A (p.Gln634=) rs1594883867
NM_013382.7(POMT2):c.1908G>A (p.Leu636=) rs2503156231
NM_013382.7(POMT2):c.1909C>T (p.Leu637Phe) rs2140162404
NM_013382.7(POMT2):c.1912C>A (p.Arg638=) rs119463989
NM_013382.7(POMT2):c.1917A>C (p.Gly639=)
NM_013382.7(POMT2):c.1917A>G (p.Gly639=) rs2503156131
NM_013382.7(POMT2):c.1920C>A (p.Gly640=)
NM_013382.7(POMT2):c.1926G>A (p.Gln642=) rs2503156010
NM_013382.7(POMT2):c.1935C>A (p.Leu645=) rs141193672
NM_013382.7(POMT2):c.1944A>C (p.Thr648=) rs148146976
NM_013382.7(POMT2):c.1953C>T (p.Tyr651=) rs1411505822
NM_013382.7(POMT2):c.1959G>T (p.Pro653=) rs775222771
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.7(POMT2):c.198G>C (p.Leu66=) rs1227022915
NM_013382.7(POMT2):c.1992C>T (p.His664=) rs143329994
NM_013382.7(POMT2):c.1995C>T (p.His665=) rs2140162003
NM_013382.7(POMT2):c.1998C>T (p.Tyr666=) rs756672659
NM_013382.7(POMT2):c.2032+14A>C rs2503154865
NM_013382.7(POMT2):c.2032+15C>T rs1380951819
NM_013382.7(POMT2):c.2032+19G>T rs1300533131
NM_013382.7(POMT2):c.2032+20_2032+25del rs761470810
NM_013382.7(POMT2):c.2033-11C>T rs2503153127
NM_013382.7(POMT2):c.2033-14C>G rs780431340
NM_013382.7(POMT2):c.2033-14C>T rs780431340
NM_013382.7(POMT2):c.2033-15T>C rs1890071344
NM_013382.7(POMT2):c.2033-6CT[3]
NM_013382.7(POMT2):c.2033-7C>A rs2503153078
NM_013382.7(POMT2):c.2034C>T (p.Gly678=) rs1459826029
NM_013382.7(POMT2):c.2038C>T (p.Leu680=) rs2503152986
NM_013382.7(POMT2):c.2061C>T (p.Leu687=) rs2503152671
NM_013382.7(POMT2):c.2074T>C (p.Leu692=) rs1890067113
NM_013382.7(POMT2):c.2079C>T (p.Ala693=) rs1388825342
NM_013382.7(POMT2):c.2082A>C (p.Ser694=) rs1293109605
NM_013382.7(POMT2):c.2082A>G (p.Ser694=) rs1293109605
NM_013382.7(POMT2):c.2082A>T (p.Ser694=) rs1293109605
NM_013382.7(POMT2):c.2088C>T (p.Pro696=) rs1389415600
NM_013382.7(POMT2):c.2094G>A (p.Ala698=) rs772876016
NM_013382.7(POMT2):c.2121G>A (p.Leu707=) rs1890061799
NM_013382.7(POMT2):c.2124C>T (p.Ser708=)
NM_013382.7(POMT2):c.213C>T (p.Thr71=) rs2503369856
NM_013382.7(POMT2):c.2142C>A (p.Ala714=) rs2503151524
NM_013382.7(POMT2):c.2142C>T (p.Ala714=) rs2503151524
NM_013382.7(POMT2):c.2147+10T>G rs2140160302
NM_013382.7(POMT2):c.2147+13G>A rs1890059003
NM_013382.7(POMT2):c.2147+15A>G rs2503151344
NM_013382.7(POMT2):c.2147+7A>C rs1472805344
NM_013382.7(POMT2):c.2147+7A>G
NM_013382.7(POMT2):c.2147+9C>T rs1253447533
NM_013382.7(POMT2):c.2151C>T (p.Phe717=) rs771326356
NM_013382.7(POMT2):c.2163C>T (p.His721=) rs1890013133
NM_013382.7(POMT2):c.2166T>C (p.Pro722=) rs2503145847
NM_013382.7(POMT2):c.2190C>T (p.Pro730=) rs2503145606
NM_013382.7(POMT2):c.219C>T (p.Phe73=) rs2503369791
NM_013382.7(POMT2):c.2205C>A (p.Pro735=) rs2503145454
NM_013382.7(POMT2):c.2214A>G (p.Pro738=) rs2140156918
NM_013382.7(POMT2):c.2241A>G (p.Ser747=) rs751053480
NM_013382.7(POMT2):c.2241A>T (p.Ser747=) rs751053480
NM_013382.7(POMT2):c.231C>T (p.Asp77=) rs1378921614
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.234G>A (p.Glu78=) rs2503369495
NM_013382.7(POMT2):c.248+13A>C rs1183509193
NM_013382.7(POMT2):c.248+6T>C rs777522318
NM_013382.7(POMT2):c.249-11G>A rs2503333560
NM_013382.7(POMT2):c.249-15C>T rs1891454463
NM_013382.7(POMT2):c.249-16T>C rs2503333588
NM_013382.7(POMT2):c.249-18T>C rs764422188
NM_013382.7(POMT2):c.249-19C>G rs774402115
NM_013382.7(POMT2):c.249-19C>T rs774402115
NM_013382.7(POMT2):c.249-8dup rs1891454173
NM_013382.7(POMT2):c.261T>C (p.Thr87=) rs2503333344
NM_013382.7(POMT2):c.270A>C (p.Gly90=) rs1891452723
NM_013382.7(POMT2):c.288T>C (p.Tyr96=) rs2139518411
NM_013382.7(POMT2):c.318C>T (p.His106=) rs2139518201
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.333+10G>A rs2503332540
NM_013382.7(POMT2):c.333+18T>A rs1379262979
NM_013382.7(POMT2):c.333+20G>A
NM_013382.7(POMT2):c.334-13C>A rs780360417
NM_013382.7(POMT2):c.334-16G>A rs747824396
NM_013382.7(POMT2):c.334-35G>C rs199713056
NM_013382.7(POMT2):c.334-8C>G rs770116643
NM_013382.7(POMT2):c.33G>A (p.Glu11=) rs776638993
NM_013382.7(POMT2):c.369T>C (p.Tyr123=) rs2503308807
NM_013382.7(POMT2):c.36C>T (p.Ser12=) rs771074829
NM_013382.7(POMT2):c.382T>C (p.Leu128=) rs1311616983
NM_013382.7(POMT2):c.393G>A (p.Lys131=) rs1891230618
NM_013382.7(POMT2):c.399G>A (p.Gly133=) rs2503308611
NM_013382.7(POMT2):c.411G>A (p.Glu137=) rs2503308467
NM_013382.7(POMT2):c.438+16T>C rs1234122482
NM_013382.7(POMT2):c.438+82G>T rs570180158
NM_013382.7(POMT2):c.439-18del rs1211609679
NM_013382.7(POMT2):c.450C>T (p.Phe150=) rs2503299176
NM_013382.7(POMT2):c.477C>G (p.Ala159=) rs1891166845
NM_013382.7(POMT2):c.51G>A (p.Arg17=) rs1891853487
NM_013382.7(POMT2):c.525C>A (p.Leu175=)
NM_013382.7(POMT2):c.543C>T (p.Thr181=) rs2139493837
NM_013382.7(POMT2):c.547+10C>T rs1263289995
NM_013382.7(POMT2):c.547+12T>C rs1891163001
NM_013382.7(POMT2):c.547+16del rs2503297532
NM_013382.7(POMT2):c.548-14C>T rs764847236
NM_013382.7(POMT2):c.548-9G>A rs1891100155
NM_013382.7(POMT2):c.54G>A (p.Arg18=) rs2503372574
NM_013382.7(POMT2):c.564T>C (p.Thr188=) rs749380107
NM_013382.7(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.7(POMT2):c.567G>C (p.Leu189=)
NM_013382.7(POMT2):c.579C>T (p.Ile193=)
NM_013382.7(POMT2):c.594C>T (p.Ile198=) rs2503286281
NM_013382.7(POMT2):c.595C>T (p.Leu199=) rs2503286254
NM_013382.7(POMT2):c.624G>A (p.Leu208=) rs2503285917
NM_013382.7(POMT2):c.627C>T (p.Ser209=) rs2503285867
NM_013382.7(POMT2):c.639C>T (p.Tyr213=) rs764878423
NM_013382.7(POMT2):c.645T>G (p.Ser215=)
NM_013382.7(POMT2):c.654C>T (p.Asp218=) rs2503285557
NM_013382.7(POMT2):c.656+10T>A rs1240189226
NM_013382.7(POMT2):c.656+17C>T rs1891090979
NM_013382.7(POMT2):c.656+20G>A
NM_013382.7(POMT2):c.656+20G>T rs2503285335
NM_013382.7(POMT2):c.657-14T>A rs2503277858
NM_013382.7(POMT2):c.657-18C>A rs759654244
NM_013382.7(POMT2):c.657-18_657-15del rs1891030471
NM_013382.7(POMT2):c.657-20T>G rs1032925016
NM_013382.7(POMT2):c.657-4T>G rs2503277776
NM_013382.7(POMT2):c.657-4del rs777481709
NM_013382.7(POMT2):c.657-7dup rs777481709
NM_013382.7(POMT2):c.717T>G (p.Ala239=) rs2503277311
NM_013382.7(POMT2):c.762G>A (p.Gly254=) rs1457542706
NM_013382.7(POMT2):c.768C>T (p.Asn256=) rs2503276887
NM_013382.7(POMT2):c.780C>T (p.Asp260=) rs2139480330
NM_013382.7(POMT2):c.790C>T (p.Leu264=) rs2503276749
NM_013382.7(POMT2):c.817-10C>G rs942797478
NM_013382.7(POMT2):c.817-14G>C rs2503267900
NM_013382.7(POMT2):c.817-15G>A
NM_013382.7(POMT2):c.817-4G>T
NM_013382.7(POMT2):c.843T>G (p.Ala281=) rs2503267533
NM_013382.7(POMT2):c.849C>T (p.Val283=) rs1890945541
NM_013382.7(POMT2):c.852G>A (p.Leu284=)
NM_013382.7(POMT2):c.855C>T (p.Cys285=) rs2503267345
NM_013382.7(POMT2):c.879C>G (p.Leu293=) rs2139473776
NM_013382.7(POMT2):c.87A>G (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.894T>C (p.Phe298=) rs1359718608
NM_013382.7(POMT2):c.903C>T (p.His301=) rs2503266839
NM_013382.7(POMT2):c.90C>G (p.Gly30=) rs923004188
NM_013382.7(POMT2):c.923+12G>A rs370723854
NM_013382.7(POMT2):c.923+12G>T rs370723854
NM_013382.7(POMT2):c.923+14C>A
NM_013382.7(POMT2):c.923+184del rs560112742
NM_013382.7(POMT2):c.923+20A>G rs2503266489
NM_013382.7(POMT2):c.923+7A>G rs2139473467
NM_013382.7(POMT2):c.923+8C>T rs183459175
NM_013382.7(POMT2):c.923+8_923+11del rs1272206712
NM_013382.7(POMT2):c.923+9A>G
NM_013382.7(POMT2):c.924-12C>G rs757386148
NM_013382.7(POMT2):c.924-12C>T rs757386148
NM_013382.7(POMT2):c.924-16C>T rs991508724
NM_013382.7(POMT2):c.924-5C>A rs570851802
NM_013382.7(POMT2):c.981C>T (p.Asn327=) rs747147327
NM_013382.7(POMT2):c.990T>C (p.Asn330=) rs139202802
NM_013382.7(POMT2):c.99G>A (p.Val33=)

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