ClinVar Miner

List of variants in gene POMT1 reported as uncertain significance for Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

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Total variants: 65
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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.*25C>T rs115818625
NM_001077365.2(POMT1):c.*330G>A
NM_001077365.2(POMT1):c.*338T>G rs193003183
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.*448C>T
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.-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.1126G>A (p.Gly376Arg) rs146869947
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser)
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.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.1581G>A (p.Leu527=)
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.1867G>A (p.Gly623Ser) rs756303645
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
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.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.459G>A (p.Met153Ile)
NM_001077365.2(POMT1):c.606-15G>C
NM_001077365.2(POMT1):c.699+18G>C rs886063537
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.803G>A (p.Arg268His) rs369644530
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
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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