ClinVar Miner

List of variants in gene POMT2 reported as likely benign for not provided

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.438+288G>C rs12433986 0.02707
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.02044
NM_013382.7(POMT2):c.548-77C>G rs149929369 0.01998
NM_013382.7(POMT2):c.1653+129C>T rs17105658 0.01823
NM_013382.7(POMT2):c.1116+35A>G rs2302831 0.01815
NM_013382.7(POMT2):c.1184-288T>C rs142996120 0.01779
NM_013382.7(POMT2):c.333+188A>C rs117335938 0.01695
NM_013382.7(POMT2):c.657-144C>T rs117741019 0.01427
NM_013382.7(POMT2):c.1786-43A>C rs74062792 0.01104
NM_013382.7(POMT2):c.439-93G>A rs113610213 0.00673
NM_013382.7(POMT2):c.1007-56C>T rs142209688 0.00671
NM_013382.7(POMT2):c.1116+267G>A rs149680753 0.00669
NM_013382.7(POMT2):c.817-105A>G rs114477078 0.00667
NM_013382.7(POMT2):c.548-280G>A rs115364957 0.00594
NM_013382.7(POMT2):c.1725+51G>C rs78688981 0.00564
NM_013382.7(POMT2):c.1183+67A>G rs145363560 0.00539
NM_013382.7(POMT2):c.923+164T>C rs75798179 0.00523
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_013382.7(POMT2):c.248+325T>G rs8177534 0.00479
NM_013382.7(POMT2):c.548-153C>T rs192494914 0.00352
NM_013382.7(POMT2):c.2148-18A>G rs138488805 0.00343
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_013382.7(POMT2):c.1485-74G>C rs536974030 0.00324
NM_013382.7(POMT2):c.548-300G>A rs537871086 0.00323
NM_013382.7(POMT2):c.1332+13C>T rs142916824 0.00211
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) rs147934334 0.00102
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.2083T>A (p.Trp695Arg) rs139308429 0.00016
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1875G>T (p.Leu625=) rs1486213644 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.1117-19G>C rs201897018
NM_013382.7(POMT2):c.1183+257_1183+260del rs3214405
NM_013382.7(POMT2):c.1184-292C>G rs552414765
NM_013382.7(POMT2):c.1577-3del rs1890321007
NM_013382.7(POMT2):c.1725+117G>C rs151254680
NM_013382.7(POMT2):c.1891+220C>T
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.334-35G>C rs199713056
NM_013382.7(POMT2):c.438+82G>T rs570180158
NM_013382.7(POMT2):c.762G>A (p.Gly254=)
NM_013382.7(POMT2):c.923+184del rs560112742

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