ClinVar Miner

List of variants in gene POMT1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
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.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.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.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.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.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.1109C>T (p.Pro370Leu) rs376258733 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+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.1014C>T (p.His338=) rs886043203 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.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.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.1698+3A>G rs794727191 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 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.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.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.599C>G (p.Ala200Gly) rs886043111 0.00001
NM_001077365.2(POMT1):c.672C>A (p.His224Gln) rs1315200279 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.700G>A (p.Val234Ile) rs755248350 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001077365.2(POMT1):c.1062G>T (p.Trp354Cys) rs1564354702
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.1125C>G (p.His375Gln) rs35242383
NM_001077365.2(POMT1):c.1162C>T (p.Arg388Cys) rs748087053
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.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup) rs773942978
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.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.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.1669A>G (p.Ile557Val)
NM_001077365.2(POMT1):c.1678T>C (p.Trp560Arg)
NM_001077365.2(POMT1):c.1699-7C>G rs764871902
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.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.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.2004-5T>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.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.2143A>C (p.Lys715Gln) rs886044082
NM_001077365.2(POMT1):c.214G>T (p.Val72Leu) rs780353966
NM_001077365.2(POMT1):c.305G>C (p.Trp102Ser)
NM_001077365.2(POMT1):c.397G>T (p.Ala133Ser)
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.506C>G (p.Ser169Cys)
NM_001077365.2(POMT1):c.539+3A>C rs780457748
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.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.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.728G>A (p.Arg243Gln)
NM_001077365.2(POMT1):c.733G>A (p.Val245Met)
NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)
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

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