ClinVar Miner

List of variants in gene POMT1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NM_001077365.2(POMT1):c.*226T>C rs3824395
NM_001077365.2(POMT1):c.*41T>C rs3739495
NM_001077365.2(POMT1):c.-20T>C rs201733950
NM_001077365.2(POMT1):c.-30-16C>T rs771949915
NM_001077365.2(POMT1):c.-31+16C>G rs535602204
NM_001077365.2(POMT1):c.-31+228dup rs527286034
NM_001077365.2(POMT1):c.-6T>G rs62620173
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494
NM_001077365.2(POMT1):c.1082+16G>A rs59515295
NM_001077365.2(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1175+13G>A rs777087288
NM_001077365.2(POMT1):c.1175+16G>A rs371908251
NM_001077365.2(POMT1):c.1176-16G>A rs199684856
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419
NM_001077365.2(POMT1):c.1302C>T (p.Asp434=) rs568246978
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1326G>A (p.Glu442=) rs764970702
NM_001077365.2(POMT1):c.1352C>T (p.Ser451Phe) rs890463115
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1366-12C>T rs757666938
NM_001077365.2(POMT1):c.1371C>T (p.Ser457=) rs746412899
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150
NM_001077365.2(POMT1):c.1451C>T (p.Thr484Met) rs201220016
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) rs761439623
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
NM_001077365.2(POMT1):c.1486+9G>A rs547775333
NM_001077365.2(POMT1):c.1487-5G>T rs747783069
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1585-47G>T rs201675418
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698+11G>C rs115243626
NM_001077365.2(POMT1):c.1698+48C>G rs2277152
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1699-19A>G rs761855332
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001077365.2(POMT1):c.1825+19del rs11345097
NM_001077365.2(POMT1):c.1825+6T>C rs1366898427
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1826-7_1826-6delinsAA rs1064793740
NM_001077365.2(POMT1):c.1828G>A (p.Ala610Thr) rs773190071
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2003+10C>T rs1474253398
NM_001077365.2(POMT1):c.2003+13C>T rs4740165
NM_001077365.2(POMT1):c.2003+9G>A rs368975092
NM_001077365.2(POMT1):c.2004-20C>T rs372767898
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) rs769694503
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.280+7_280+8del rs561658895
NM_001077365.2(POMT1):c.281-5T>C rs367743923
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285
NM_001077365.2(POMT1):c.427+12G>A rs372588957
NM_001077365.2(POMT1):c.428-21T>C rs11243404
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.501G>A (p.Val167=) rs757051194
NM_001077365.2(POMT1):c.539+19C>T rs376642449
NM_001077365.2(POMT1):c.539+3A>G rs780457748
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077365.2(POMT1):c.606-12A>G rs1057523851
NM_001077365.2(POMT1):c.606-9T>C rs760178838
NM_001077365.2(POMT1):c.630G>A (p.Thr210=) rs553160213
NM_001077365.2(POMT1):c.633C>T (p.Tyr211=) rs747129906
NM_001077365.2(POMT1):c.699+33G>A rs750646014
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.699+53= rs2296949
NM_001077365.2(POMT1):c.699+53A>G rs2296949
NM_001077365.2(POMT1):c.699+72T>C rs200780140
NM_001077365.2(POMT1):c.699+85C>G rs369000699
NM_001077365.2(POMT1):c.699+85C>T rs369000699
NM_001077365.2(POMT1):c.700-28A>G rs187996836
NM_001077365.2(POMT1):c.700-48A>G rs2018621
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679
NM_001077365.2(POMT1):c.774C>T (p.Phe258=) rs761217834
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) rs759734493
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530
NM_001077365.2(POMT1):c.855+6T>C rs200692465
NM_001077365.2(POMT1):c.856-49T>G rs4740163
NM_001077365.2(POMT1):c.868C>T (p.Arg290Trp) rs886042627
NM_001077365.2(POMT1):c.875C>G (p.Thr292Ser) rs376471064
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164
NM_001077365.2(POMT1):c.919C>T (p.Leu307=) rs983634068
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573
NM_001077365.2(POMT1):c.936G>T (p.Gly312=) rs797045897
NM_001077365.2(POMT1):c.986+49G>A rs10901066
NM_001077365.2(POMT1):c.986+9A>G rs202095070

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