ClinVar Miner

List of variants in gene POMT1 studied for Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NM_001077365.2(POMT1):c.*105G>A rs886063539
NM_001077365.2(POMT1):c.*182T>C rs535816758
NM_001077365.2(POMT1):c.*206A>G
NM_001077365.2(POMT1):c.*226T>C rs3824395
NM_001077365.2(POMT1):c.*25C>T rs115818625
NM_001077365.2(POMT1):c.*278T>C rs10793885
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.*330G>A
NM_001077365.2(POMT1):c.*338T>G rs193003183
NM_001077365.2(POMT1):c.*348C>T rs7857419
NM_001077365.2(POMT1):c.*370C>G
NM_001077365.2(POMT1):c.*37G>A
NM_001077365.2(POMT1):c.*381G>A
NM_001077365.2(POMT1):c.*41T>C rs3739495
NM_001077365.2(POMT1):c.*421G>A rs10257
NM_001077365.2(POMT1):c.*448C>T
NM_001077365.2(POMT1):c.*453T>C rs11005
NM_001077365.2(POMT1):c.*529G>A rs116005066
NM_001077365.2(POMT1):c.*591C>T
NM_001077365.2(POMT1):c.*613C>T
NM_001077365.2(POMT1):c.*614G>A rs373680261
NM_001077365.2(POMT1):c.*635T>G rs112845474
NM_001077365.2(POMT1):c.*64T>A
NM_001077365.2(POMT1):c.*68C>T rs773474667
NM_001077365.2(POMT1):c.*693C>T rs886063541
NM_001077365.2(POMT1):c.-168G>C rs556267289
NM_001077365.2(POMT1):c.-30G>A rs780382988
NM_001077365.2(POMT1):c.-6T>G rs62620173
NM_001077365.2(POMT1):c.-83C>T
NM_001077365.2(POMT1):c.1083-7C>G
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=)
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760
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.1175C>T (p.Thr392Met) rs397515400
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser)
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=)
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile)
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg)
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1486+10C>T rs373393733
NM_001077365.2(POMT1):c.1486+14G>A rs142995404
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872
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.1581G>A (p.Leu527=)
NM_001077365.2(POMT1):c.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413
NM_001077365.2(POMT1):c.1826-6C>A rs140258585
NM_001077365.2(POMT1):c.1826-7C>A rs148180760
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.2003+13C>T rs4740165
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598
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.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile)
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982
NM_001077365.2(POMT1):c.606-15G>C
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763
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.817G>A (p.Asp273Asn)
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.927C>T (p.Asn309=) rs753694905
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001135954.2(UCK1):c.*1373C>T
NM_007171.3(POMT1):c.-195C>T rs886063536
NM_007171.3(POMT1):c.-196G>T rs886063535

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