ClinVar Miner

List of variants in gene POMT1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
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.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.1826-40G>A rs187443595 0.00596
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
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.700-28A>G rs187996836 0.00060
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.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.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.30G>A (p.Val10=) rs201533471 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
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.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.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.1330C>T (p.Arg444Cys) rs752384050 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.634G>A (p.Val212Met) rs746119386 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 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.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.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.1014C>T (p.His338=) rs886043203 0.00001
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter) rs756973046 0.00001
NM_001077365.2(POMT1):c.1129G>A (p.Asp377Asn) rs886044066 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.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.1698+3A>G rs794727191 0.00001
NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln) rs367709136 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.345G>A (p.Ser115=) rs147212285 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.699+1G>A rs1275810616 0.00001
NM_001077365.2(POMT1):c.699+67G>A rs776061161 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
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.1162C>T (p.Arg388Cys) rs748087053
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.1214_1215delinsTC (p.Glu405Val) rs398124243
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
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.1647G>A (p.Glu549=) rs757830349
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) rs794727190
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.181T>A (p.Leu61Met) rs886042868
NM_001077365.2(POMT1):c.1933C>T (p.Leu645=) rs750972624
NM_001077365.2(POMT1):c.197C>G (p.Pro66Arg) rs757903559
NM_001077365.2(POMT1):c.2004-5T>C rs886044271
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.2101dup (p.Asp701fs) rs398124245
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.452G>C (p.Arg151Thr) rs398124246
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.641T>C (p.Val214Ala) rs919829316
NM_001077365.2(POMT1):c.663T>C (p.His221=) rs886043159
NM_001077365.2(POMT1):c.699+19T>C rs763483567
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.846C>T (p.Ala282=) rs886043307
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.990T>A (p.Tyr330Ter) rs765230689

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