ClinVar Miner

List of variants in gene POMT1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_001077365.2(POMT1):c.1487-130A>G rs2010635 0.90020
NM_001077365.2(POMT1):c.281-82C>T rs6597501 0.89469
NM_001077365.2(POMT1):c.986+246G>A rs3739492 0.88280
NM_001077365.2(POMT1):c.986+184G>A rs10793881 0.88278
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.1083-180G>A rs7865761 0.88274
NM_001077365.2(POMT1):c.986+279T>C rs3739493 0.88269
NM_001077365.2(POMT1):c.987-173C>T rs10901067 0.88268
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.428-232A>G rs10793880 0.88251
NM_001077365.2(POMT1):c.1825+198C>G rs7849433 0.88242
NM_001077365.2(POMT1):c.1366-61A>G rs1547768 0.88236
NM_001077365.2(POMT1):c.539+104A>G rs28447664 0.88233
NM_001077365.2(POMT1):c.539+91C>T rs11999204 0.88220
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.1826-248T>C rs7870715 0.88128
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_001077365.2(POMT1):c.855+175G>A rs3780259 0.87860
NM_001077365.2(POMT1):c.281-199G>A rs6597500 0.87773
NM_001077365.2(POMT1):c.1698+107C>A rs2277153 0.87061
NM_001077365.2(POMT1):c.280+271G>A rs10448341 0.86460
NM_001077365.2(POMT1):c.1699-339A>G rs4740258 0.84060
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001077365.2(POMT1):c.856-299T>A rs10901064 0.73785
NM_001077365.2(POMT1):c.428-340C>T rs10901063 0.71615
NM_001077365.2(POMT1):c.2004-70C>T rs10122068 0.70537
NM_001077365.2(POMT1):c.987-102G>A rs116150532 0.13429
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.1083-64C>T rs77176471 0.12197
NM_001077365.2(POMT1):c.1698+233C>T rs62580581 0.11588
NM_001077365.2(POMT1):c.855+225A>G rs117287406 0.10393
NM_001077365.2(POMT1):c.427+258C>T rs74435115 0.10344
NM_001077365.2(POMT1):c.428-138T>C rs72770165 0.08610
NM_001077365.2(POMT1):c.856-65G>A rs34159422 0.08167
NM_001077365.2(POMT1):c.1826-268G>A rs61584357 0.05897
NM_001077365.2(POMT1):c.1487-164G>A rs749591 0.05511
NM_001077365.2(POMT1):c.1487-166G>A rs749590 0.05511
NM_001077365.2(POMT1):c.1272+84C>T rs77373739 0.05369
NM_001077365.2(POMT1):c.1083-224G>A rs77125240 0.04245
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1272+183A>G rs112433379 0.04222
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1083-253T>C rs73656664 0.03234
NM_001077365.2(POMT1):c.1272+262G>C rs113878457 0.02853
NM_001077365.2(POMT1):c.1083-262T>C rs73555576 0.02833
NM_001077365.2(POMT1):c.1175+98_1175+99del rs139273349 0.02629
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001077365.2(POMT1):c.1273-70C>T rs113628769 0.02200
NM_001077365.2(POMT1):c.123-348G>C rs149965169 0.01873
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001077365.2(POMT1):c.1175+174C>T rs144547065 0.01127
NM_001077365.2(POMT1):c.280+136dup rs149177205 0.01069
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.1272+254C>A rs536897848 0.01019
NM_001077365.2(POMT1):c.1825+237T>C rs113453750 0.01014
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.987-274C>T rs116547001 0.00612
NM_001077365.2(POMT1):c.122+248T>C rs76554548 0.00611
NM_001077365.2(POMT1):c.1082+45C>G rs181862470 0.00598
NM_001077365.2(POMT1):c.1826-40G>A rs187443595 0.00596
NM_001077365.2(POMT1):c.1365+77C>T rs115274090 0.00488
NM_001077365.2(POMT1):c.280+31G>A rs79446775 0.00484
NM_001077365.2(POMT1):c.281-160C>T rs74723827 0.00481
NM_001077365.2(POMT1):c.281-85C>T rs145670145 0.00479
NM_001077365.2(POMT1):c.700-30G>T rs111429426 0.00473
NM_001077365.2(POMT1):c.2004-64G>T rs139862946 0.00464
NM_001077365.2(POMT1):c.1272+193A>C rs571695392 0.00442
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1825+25T>G rs75539982 0.00347
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001077365.2(POMT1):c.1273-201C>T rs116630918 0.00322
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001077365.2(POMT1):c.427+72A>T rs138335760 0.00203
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619 0.00181
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00050
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1671T>C (p.Ile557=) rs200969468 0.00024
NM_001077365.2(POMT1):c.629C>T (p.Thr210Met) rs377037072 0.00023
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.1439A>G (p.Tyr480Cys) rs145464516 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001077365.2(POMT1):c.246C>T (p.Phe82=) rs148887050 0.00014
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001077365.2(POMT1):c.698A>G (p.Asn233Ser) rs139774354 0.00013
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00012
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00011
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064 0.00011
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001077365.2(POMT1):c.1252G>A (p.Ala418Thr) rs142057517 0.00010
NM_001077365.2(POMT1):c.2067C>T (p.His689=) rs141895982 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001077365.2(POMT1):c.1740G>A (p.Ser580=) rs148758906 0.00009
NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser) rs182295674 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His) rs147601415 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 0.00007
NM_001077365.2(POMT1):c.986+5G>A rs370096853 0.00007
NM_001077365.2(POMT1):c.1163G>A (p.Arg388His) rs138640226 0.00006
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.30G>A (p.Val10=) rs201533471 0.00006
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) rs371531181 0.00006
NM_001077365.2(POMT1):c.579_580del (p.Val195fs) rs1032439203 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001077365.2(POMT1):c.1565C>T (p.Ala522Val) rs374402055 0.00005
NM_001077365.2(POMT1):c.425T>C (p.Ile142Thr) rs746950128 0.00005
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627 0.00005
NM_001077365.2(POMT1):c.1175+13G>A rs777087288 0.00004
NM_001077365.2(POMT1):c.123-6T>C rs201486083 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.1483G>A (p.Ala495Thr) rs774039973 0.00004
NM_001077365.2(POMT1):c.1511G>A (p.Arg504Gln) rs370705614 0.00004
NM_001077365.2(POMT1):c.1795C>T (p.Arg599Trp) rs150899645 0.00004
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001077365.2(POMT1):c.424A>T (p.Ile142Phe) rs141833028 0.00004
NM_001077365.2(POMT1):c.620G>A (p.Gly207Asp) rs765733801 0.00004
NM_001077365.2(POMT1):c.1052A>G (p.Asn351Ser) rs756531223 0.00003
NM_001077365.2(POMT1):c.1366-11G>A rs1157478556 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001077365.2(POMT1):c.2004-1G>C rs745738628 0.00003
NM_001077365.2(POMT1):c.202T>C (p.Phe68Leu) rs138433752 0.00003
NM_001077365.2(POMT1):c.2032G>A (p.Ala678Thr) rs747903773 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001077365.2(POMT1):c.987-39C>T rs530208525 0.00003
NM_001077365.2(POMT1):c.1109C>T (p.Pro370Leu) rs376258733 0.00002
NM_001077365.2(POMT1):c.1196del (p.Leu399fs) rs768144522 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001077365.2(POMT1):c.1381C>T (p.Leu461Phe) rs749458250 0.00002
NM_001077365.2(POMT1):c.141T>C (p.Tyr47=) rs752941420 0.00002
NM_001077365.2(POMT1):c.1432C>T (p.Arg478Trp) rs763756593 0.00002
NM_001077365.2(POMT1):c.1571T>G (p.Phe524Cys) rs138825095 0.00002
NM_001077365.2(POMT1):c.1627T>C (p.Tyr543His) rs1192384406 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00002
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val) rs749978093 0.00002
NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) rs373402995 0.00002
NM_001077365.2(POMT1):c.247G>A (p.Asp83Asn) rs530211718 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) rs780170650 0.00002
NM_001077365.2(POMT1):c.699+14T>A rs370038491 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001077365.2(POMT1):c.880G>T (p.Gly294Cys) rs145395372 0.00002
NM_001077365.2(POMT1):c.-37A>G rs1588303228 0.00001
NM_001077365.2(POMT1):c.1014C>T (p.His338=) rs886043203 0.00001
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046 0.00001
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr) rs1334264954 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 0.00001
NM_001077365.2(POMT1):c.1176-2A>G rs746523421 0.00001
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1331G>A (p.Arg444His) rs758736387 0.00001
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr) rs150702948 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1433G>A (p.Arg478Gln) rs1386572159 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1462G>A (p.Val488Met) rs748365119 0.00001
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985 0.00001
NM_001077365.2(POMT1):c.1529C>T (p.Ala510Val) rs752732512 0.00001
NM_001077365.2(POMT1):c.1574C>T (p.Ser525Leu) rs1018748368 0.00001
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro) rs1489617043 0.00001
NM_001077365.2(POMT1):c.1617G>A (p.Ser539=) rs778687698 0.00001
NM_001077365.2(POMT1):c.1698+3A>G rs794727191 0.00001
NM_001077365.2(POMT1):c.1792C>T (p.Arg598Ter) rs761848742 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 0.00001
NM_001077365.2(POMT1):c.1825+9C>T rs747140354 0.00001
NM_001077365.2(POMT1):c.1837C>T (p.Arg613Cys) rs759135168 0.00001
NM_001077365.2(POMT1):c.184G>A (p.Asp62Asn) rs1945770663 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001077365.2(POMT1):c.2003+4C>T rs766635497 0.00001
NM_001077365.2(POMT1):c.2058C>T (p.Ser686=) rs886043948 0.00001
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met) rs150209587 0.00001
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001077365.2(POMT1):c.426C>T (p.Ile142=) rs771390000 0.00001
NM_001077365.2(POMT1):c.427+8C>T rs201727519 0.00001
NM_001077365.2(POMT1):c.499G>A (p.Val167Met) rs757875244 0.00001
NM_001077365.2(POMT1):c.572C>T (p.Thr191Ile) rs1344992449 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.599C>G (p.Ala200Gly) rs886043111 0.00001
NM_001077365.2(POMT1):c.672C>A (p.His224Gln) rs1315200279 0.00001
NM_001077365.2(POMT1):c.692T>A (p.Leu231Ter) rs759156674 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.699+1G>A rs1275810616 0.00001
NM_001077365.2(POMT1):c.699+32C>T rs201225383 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.816C>T (p.His272=) rs191404622 0.00001
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981 0.00001
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.1058G>A (p.Trp353Ter) rs2131683250
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys) rs1564354702
NM_001077365.2(POMT1):c.1082+2T>C rs2131683729
NM_001077365.2(POMT1):c.1083-284dup rs75772133
NM_001077365.2(POMT1):c.1083-9_1083-8del rs781619064
NM_001077365.2(POMT1):c.1094T>C (p.Val365Ala) rs1251343700
NM_001077365.2(POMT1):c.111G>A (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1158del (p.Thr387fs) rs2131708207
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
NM_001077365.2(POMT1):c.1175+2dup rs886041907
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp) rs1564364465
NM_001077365.2(POMT1):c.1194C>A (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1200C>T (p.Ser400=) rs886043851
NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) rs1554778005
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val) rs398124243
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1221C>T (p.Ser407=) rs1172989588
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
NM_001077365.2(POMT1):c.1272+196C>T rs113330289
NM_001077365.2(POMT1):c.1272+214_1272+262del rs1456577889
NM_001077365.2(POMT1):c.1272+249_1272+267del rs139935499
NM_001077365.2(POMT1):c.1272+249_1272+303del rs1564366378
NM_001077365.2(POMT1):c.1272+261_1272+262insCTAACACA rs1564366833
NM_001077365.2(POMT1):c.1272+262_1272+263insGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTCCTC rs1564366867
NM_001077365.2(POMT1):c.1272+262_1272+297del rs1564366761
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1298_1299del (p.Thr433fs)
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)
NM_001077365.2(POMT1):c.1343T>G (p.Val448Gly)
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1372G>A (p.Gly458Arg)
NM_001077365.2(POMT1):c.1441C>T (p.His481Tyr)
NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter) rs727502854
NM_001077365.2(POMT1):c.1491G>C (p.Gln497His) rs2131866160
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_001077365.2(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1535T>C (p.Val512Ala)
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077365.2(POMT1):c.1552del (p.Leu518fs) rs1453641005
NM_001077365.2(POMT1):c.1576G>A (p.Glu526Lys) rs1949475355
NM_001077365.2(POMT1):c.1639C>T (p.Pro547Ser) rs1588482418
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
NM_001077365.2(POMT1):c.1669A>G (p.Ile557Val)
NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1699-7C>G rs764871902
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.1749C>T (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1760T>C (p.Ile587Thr)
NM_001077365.2(POMT1):c.1779G>C (p.Leu593Phe)
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu) rs1564332130
NM_001077365.2(POMT1):c.1799G>A (p.Arg600Gln) rs753485021
NM_001077365.2(POMT1):c.181T>A (p.Leu61Met) rs886042868
NM_001077365.2(POMT1):c.1835T>A (p.Leu612Gln)
NM_001077365.2(POMT1):c.1925A>G (p.Tyr642Cys) rs2131922603
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=) rs750972624
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg) rs757903559
NM_001077365.2(POMT1):c.2004-1_2005del rs1057520142
NM_001077365.2(POMT1):c.2004-5T>C rs886044271
NM_001077365.2(POMT1):c.2022C>G (p.Ser674Arg)
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His) rs113633543
NM_001077365.2(POMT1):c.2052C>T (p.Tyr684=)
NM_001077365.2(POMT1):c.2080C>G (p.Leu694Val)
NM_001077365.2(POMT1):c.2087C>G (p.Pro696Arg) rs886044354
NM_001077365.2(POMT1):c.208C>A (p.His70Asn) rs886043485
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.2098G>T (p.Gly700Trp) rs912556508
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2113_2114dup (p.Pro706fs) rs587777819
NM_001077365.2(POMT1):c.2143A>C (p.Lys715Gln) rs886044082
NM_001077365.2(POMT1):c.2144_2147del (p.Lys715fs) rs750453909
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu) rs780353966
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.281-285del rs752320381
NM_001077365.2(POMT1):c.305G>C (p.Trp102Ser)
NM_001077365.2(POMT1):c.33G>T (p.Val11=)
NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)
NM_001077365.2(POMT1):c.428-2A>G rs1554773448
NM_001077365.2(POMT1):c.449C>T (p.Ser150Leu)
NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr) rs398124246
NM_001077365.2(POMT1):c.47A>G (p.Asn16Ser)
NM_001077365.2(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.539+3A>C rs780457748
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) rs767056835
NM_001077365.2(POMT1):c.619G>T (p.Gly207Cys) rs1554774121
NM_001077365.2(POMT1):c.633C>G (p.Tyr211Ter) rs747129906
NM_001077365.2(POMT1):c.640G>T (p.Val214Leu)
NM_001077365.2(POMT1):c.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.653C>G (p.Ala218Gly)
NM_001077365.2(POMT1):c.662A>C (p.His221Pro) rs150652167
NM_001077365.2(POMT1):c.663T>C (p.His221=) rs886043159
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001077365.2(POMT1):c.699+19T>C rs763483567
NM_001077365.2(POMT1):c.699+64G>C rs746958804
NM_001077365.2(POMT1):c.699+67del rs1588377489
NM_001077365.2(POMT1):c.700-92del rs5900942
NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)
NM_001077365.2(POMT1):c.711C>G (p.Phe237Leu) rs2131651682
NM_001077365.2(POMT1):c.725C>T (p.Ala242Val) rs1554774466
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) rs398124247
NM_001077365.2(POMT1):c.728G>A (p.Arg243Gln)
NM_001077365.2(POMT1):c.728G>C (p.Arg243Pro) rs772980661
NM_001077365.2(POMT1):c.733G>A (p.Val245Met)
NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)
NM_001077365.2(POMT1):c.767T>A (p.Leu256Ter) rs2131653908
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.827T>C (p.Met276Thr)
NM_001077365.2(POMT1):c.833G>C (p.Ser278Thr) rs747874952
NM_001077365.2(POMT1):c.846C>T (p.Ala282=) rs886043307
NM_001077365.2(POMT1):c.852A>T (p.Leu284Phe)
NM_001077365.2(POMT1):c.889C>G (p.Leu297Val)
NM_001077365.2(POMT1):c.901_909del (p.Phe301_Ser303del)
NM_001077365.2(POMT1):c.937A>G (p.Lys313Glu) rs886042835
NM_001077365.2(POMT1):c.970G>A (p.Asp324Asn) rs886042459
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys) rs377372480
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572
NM_001077365.2(POMT1):c.987-113C>G rs10901068
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689

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