ClinVar Miner

List of variants in gene POMT1 studied for cobblestone lissencephaly

Included ClinVar conditions (33):
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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_007171.3(POMT1):c.1044C>A (p.Tyr348Ter)
NM_007171.3(POMT1):c.1052+5G>A rs370096853
NM_007171.3(POMT1):c.1052+9A>G rs202095070
NM_007171.3(POMT1):c.1053-2A>C rs1453773610
NM_007171.3(POMT1):c.1056T>A (p.Tyr352Ter) rs765230689
NM_007171.3(POMT1):c.1113C>T (p.Asp371=) rs3739494
NM_007171.3(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_007171.3(POMT1):c.1134A>G (p.Val378=) rs1280401262
NM_007171.3(POMT1):c.1150C>A (p.His384Asn) rs141229412
NM_007171.3(POMT1):c.1153C>T (p.Gln385Ter) rs200056620
NM_007171.3(POMT1):c.1182T>C (p.Pro394=) rs146945848
NM_007171.3(POMT1):c.1183G>C (p.Val395Leu) rs200508760
NM_007171.3(POMT1):c.1191C>T (p.His397=) rs35242383
NM_007171.3(POMT1):c.1192G>A (p.Gly398Arg) rs146869947
NM_007171.3(POMT1):c.1215C>T (p.His405=) rs202121299
NM_007171.3(POMT1):c.1216G>A (p.Gly406Ser) rs146234177
NM_007171.3(POMT1):c.122+5G>A rs376753193
NM_007171.3(POMT1):c.1228C>T (p.Arg410Cys) rs748087053
NM_007171.3(POMT1):c.1229G>A (p.Arg410His)
NM_007171.3(POMT1):c.1259C>T (p.Pro420Leu) rs776388419
NM_007171.3(POMT1):c.1260_1262del (p.Leu421del) rs587777818
NM_007171.3(POMT1):c.1261_1262del (p.Leu421fs) rs1564364615
NM_007171.3(POMT1):c.1295T>C (p.Ile432Thr) rs1554778053
NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) rs11243406
NM_007171.3(POMT1):c.1319C>T (p.Ala440Val) rs369651101
NM_007171.3(POMT1):c.1338+2T>C rs1564365317
NM_007171.3(POMT1):c.1341A>G (p.Glu447=) rs62620174
NM_007171.3(POMT1):c.1396C>T (p.Arg466Cys) rs752384050
NM_007171.3(POMT1):c.1415C>A (p.Thr472Asn)
NM_007171.3(POMT1):c.1427T>G (p.Leu476Ter) rs1554780670
NM_007171.3(POMT1):c.1457G>C (p.Trp486Ser) rs746849558
NM_007171.3(POMT1):c.1482C>T (p.Val494=) rs139687326
NM_007171.3(POMT1):c.1514G>A (p.Ser505Asn) rs750937093
NM_007171.3(POMT1):c.151A>T (p.Ile51Phe) rs886044651
NM_007171.3(POMT1):c.1545C>T (p.Tyr515=) rs62636653
NM_007171.3(POMT1):c.1546G>A (p.Gly516Ser) rs200204923
NM_007171.3(POMT1):c.154T>C (p.Ser52Pro) rs1554771665
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1606G>A (p.Val536Ile)
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1621A>G (p.Ser541Gly) rs1564381465
NM_007171.3(POMT1):c.1664C>T (p.Ala555Val) rs199682341
NM_007171.3(POMT1):c.1724T>C (p.Leu575Pro)
NM_007171.3(POMT1):c.1758G>A (p.Arg586=) rs34954751
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007171.3(POMT1):c.1771A>C (p.Ile591Leu)
NM_007171.3(POMT1):c.1793T>C (p.Val598Ala) rs144338642
NM_007171.3(POMT1):c.1801G>C (p.Val601Leu)
NM_007171.3(POMT1):c.1829A>G (p.Tyr610Cys) rs772131719
NM_007171.3(POMT1):c.1859G>A (p.Arg620Gln) rs202140413
NM_007171.3(POMT1):c.1861C>T (p.Arg621Trp) rs150899645
NM_007171.3(POMT1):c.1862G>A (p.Arg621Gln) rs367709136
NM_007171.3(POMT1):c.1864C>T (p.Arg622Ter) rs794727208
NM_007171.3(POMT1):c.1889A>G (p.Gln630Arg) rs145021255
NM_007171.3(POMT1):c.1892-7_1892-6delinsAA rs1064793740
NM_007171.3(POMT1):c.1903_1918dup (p.Gly640fs)
NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) rs12115566
NM_007171.3(POMT1):c.1933G>A (p.Gly645Ser) rs756303645
NM_007171.3(POMT1):c.1958C>T (p.Pro653Leu) rs149682171
NM_007171.3(POMT1):c.197C>T (p.Pro66Leu) rs757903559
NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) rs146512619
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.2069+4C>T rs766635497
NM_007171.3(POMT1):c.2093T>C (p.Phe698Ser) rs1201402718
NM_007171.3(POMT1):c.2097C>T (p.Ser699=) rs778418119
NM_007171.3(POMT1):c.2110dup (p.Ala704fs) rs587777817
NM_007171.3(POMT1):c.2125G>A (p.Ala709Thr) rs535544133
NM_007171.3(POMT1):c.2126C>T (p.Ala709Val) rs138171526
NM_007171.3(POMT1):c.2133C>A (p.His711Gln) rs141895982
NM_007171.3(POMT1):c.2133C>T (p.His711=) rs141895982
NM_007171.3(POMT1):c.2149C>T (p.Arg717Cys)
NM_007171.3(POMT1):c.2150G>A (p.Arg717His)
NM_007171.3(POMT1):c.2156T>A (p.Leu719His)
NM_007171.3(POMT1):c.2163C>A (p.Tyr721Ter) rs138902646
NM_007171.3(POMT1):c.2167G>T (p.Asp723Tyr)
NM_007171.3(POMT1):c.2167dup (p.Asp723fs) rs398124245
NM_007171.3(POMT1):c.2177_2178TC[1] (p.Ser727fs) rs587777819
NM_007171.3(POMT1):c.2181G>A (p.Ser727=) rs76092524
NM_007171.3(POMT1):c.2189A>T (p.Glu730Val)
NM_007171.3(POMT1):c.2203C>T (p.Arg735Cys) rs147266709
NM_007171.3(POMT1):c.2204G>A (p.Arg735His) rs938573554
NM_007171.3(POMT1):c.2210_2213dup (p.Asp738fs)
NM_007171.3(POMT1):c.2233C>T (p.Arg745Ter) rs202202445
NM_007171.3(POMT1):c.2244G>A (p.Ter748=) rs147143094
NM_007171.3(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_007171.3(POMT1):c.280+7_280+8del rs561658895
NM_007171.3(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_007171.3(POMT1):c.30G>A (p.Val10=) rs201533471
NM_007171.3(POMT1):c.328C>T (p.Leu110Phe) rs1338443127
NM_007171.3(POMT1):c.332C>T (p.Ala111Val) rs371531181
NM_007171.3(POMT1):c.367G>T (p.Val123Leu)
NM_007171.3(POMT1):c.389A>C (p.His130Pro) rs752880907
NM_007171.3(POMT1):c.401T>C (p.Met134Thr)
NM_007171.3(POMT1):c.418_420del (p.Met140del) rs587777820
NM_007171.3(POMT1):c.424A>T (p.Ile142Phe) rs141833028
NM_007171.3(POMT1):c.426C>T (p.Ile142=) rs771390000
NM_007171.3(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_007171.3(POMT1):c.485del (p.Phe162fs) rs1250351189
NM_007171.3(POMT1):c.488A>G (p.Asn163Ser) rs182295674
NM_007171.3(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_007171.3(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_007171.3(POMT1):c.586G>A (p.Ala196Thr) rs199498900
NM_007171.3(POMT1):c.605+1G>C rs766648827
NM_007171.3(POMT1):c.606del (p.Ile203fs)
NM_007171.3(POMT1):c.629C>T (p.Thr210Met) rs377037072
NM_007171.3(POMT1):c.698A>G (p.Asn233Ser) rs139774354
NM_007171.3(POMT1):c.752G>A (p.Arg251Gln) rs2296949
NM_007171.3(POMT1):c.761del (p.Gln254fs) rs1356791510
NM_007171.3(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_007171.3(POMT1):c.790G>A (p.Ala264Thr) rs779771679
NM_007171.3(POMT1):c.818C>T (p.Pro273Leu) rs139660235
NM_007171.3(POMT1):c.823G>A (p.Val275Ile) rs772590277
NM_007171.3(POMT1):c.855G>C (p.Leu285Phe) rs201073763
NM_007171.3(POMT1):c.869G>A (p.Arg290His) rs369644530
NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) rs119462981
NM_007171.3(POMT1):c.912C>T (p.Ala304=) rs886043307
NM_007171.3(POMT1):c.913A>C (p.Ser305Arg) rs747506380
NM_007171.3(POMT1):c.934C>T (p.Arg312Trp) rs886042627
NM_007171.3(POMT1):c.942C>T (p.Thr314=) rs10901065
NM_007171.3(POMT1):c.957G>A (p.Leu319=) rs76109289
NM_007171.3(POMT1):c.979G>A (p.Val327Ile) rs4740164
NM_007171.3(POMT1):c.993C>T (p.Asn331=) rs753694905
NM_007171.3(POMT1):c.994G>A (p.Val332Ile) rs190112934

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