ClinVar Miner

List of variants in gene POMT2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1484+95A>G rs3815625 0.83173
NM_013382.7(POMT2):c.1653+83A>C rs2216089 0.52503
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_013382.7(POMT2):c.1007-256G>A rs3783986 0.40868
NM_013382.7(POMT2):c.547+201T>C rs3815626 0.33147
NM_013382.7(POMT2):c.1654-217A>G rs2098380 0.33145
NM_013382.7(POMT2):c.1891+54A>G rs11625197 0.24467
NM_013382.7(POMT2):c.816+51T>C rs2287392 0.23118
NM_013382.7(POMT2):c.1006+261C>T rs2287388 0.23064
NM_013382.7(POMT2):c.817-121C>T rs2287389 0.23004
NM_013382.7(POMT2):c.817-123T>C rs2287390 0.22985
NM_013382.7(POMT2):c.1892-164C>T rs61990291 0.22317
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_013382.7(POMT2):c.1911= (p.Leu637=) rs3209079 0.17887
NM_013382.7(POMT2):c.1383= (p.Arg461=) rs2270419 0.17126
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_013382.7(POMT2):c.1786-39C>T rs438931 0.12674
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_013382.7(POMT2):c.1006+212A>G rs73311328 0.10956
NM_013382.7(POMT2):c.1653+266C>T rs7159378 0.10883
NM_013382.7(POMT2):c.1007-282T>C rs55687913 0.08644
NM_013382.7(POMT2):c.1116+165C>T rs67600987 0.08617
NM_013382.7(POMT2):c.334-45T>C rs66502123 0.08383
NM_013382.7(POMT2):c.249-109A>G rs61442105 0.06033
NM_013382.7(POMT2):c.1484+136T>C rs58212324 0.05768
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_013382.7(POMT2):c.1007-346G>A rs75809249 0.05373
NM_013382.7(POMT2):c.438+81C>T rs3815627 0.05217
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_013382.7(POMT2):c.2147+147G>A rs60626204 0.04243
NM_013382.7(POMT2):c.248+108C>A rs11629257 0.04110
NM_013382.7(POMT2):c.1184-152C>T rs76350342 0.03884
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_013382.7(POMT2):c.1576+55C>T rs78002771 0.02868
NM_013382.7(POMT2):c.438+267A>G rs78314442 0.02744
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.1007-88A>G rs74065604 0.01692
NM_013382.7(POMT2):c.923+341A>G rs59556316 0.01637
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.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
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.924-10C>T rs142122657 0.00258
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.1045C>T (p.Arg349Trp) rs141339355 0.00083
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.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) rs76700503 0.00041
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_013382.7(POMT2):c.2148-17C>G rs201328470 0.00038
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) rs148146976 0.00026
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) rs142445941 0.00023
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) rs138266415 0.00019
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
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.1250A>G (p.Lys417Arg) rs147268052 0.00011
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) rs200690151 0.00009
NM_013382.7(POMT2):c.439-16T>C rs747572959 0.00008
NM_013382.7(POMT2):c.1484+17T>C rs769039137 0.00006
NM_013382.7(POMT2):c.1785+20C>T rs371727483 0.00006
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) rs369365744 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) rs548359755 0.00006
NM_013382.7(POMT2):c.640A>C (p.Asn214His) rs376485603 0.00006
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) rs200163818 0.00005
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) rs745417690 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) rs751776398 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.846T>A (p.Arg282=) rs750579071 0.00004
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) rs966965226 0.00003
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) rs760608239 0.00003
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) rs371988132 0.00003
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) rs756055923 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) rs771812476 0.00002
NM_013382.7(POMT2):c.2075T>C (p.Leu692Ser) rs1361876642 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013382.7(POMT2):c.1090G>A (p.Glu364Lys) rs772255938 0.00001
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) rs764723711 0.00001
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) rs886043224 0.00001
NM_013382.7(POMT2):c.1254-7C>T rs753987994 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1332+4A>G rs1201960470 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.1726-15G>C rs1057524013 0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) rs766169193 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.2033-20G>A rs1057524128 0.00001
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) rs753326186 0.00001
NM_013382.7(POMT2):c.629T>C (p.Met210Thr) rs369654108 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.1006+148C>T rs7143099
NM_013382.7(POMT2):c.1006+1del rs1064796019
NM_013382.7(POMT2):c.1007-331_1007-329dup rs3837647
NM_013382.7(POMT2):c.1116+243T>G rs11627257
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.1238G>A (p.Arg413Gln) rs190285831
NM_013382.7(POMT2):c.1332+19T>G rs1057522317
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) rs753037500
NM_013382.7(POMT2):c.1484+1G>T rs727502857
NM_013382.7(POMT2):c.1510T>G (p.Cys504Gly) rs763308182
NM_013382.7(POMT2):c.1577-3del rs1890321007
NM_013382.7(POMT2):c.1654-248_1654-242dup rs112591735
NM_013382.7(POMT2):c.1712dup (p.Ile572fs) rs780725241
NM_013382.7(POMT2):c.1721A>T (p.Tyr574Phe) rs142870987
NM_013382.7(POMT2):c.1725+117G>C rs151254680
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1763G>A (p.Arg588Gln)
NM_013382.7(POMT2):c.1764_1765del (p.Val589fs) rs1555351889
NM_013382.7(POMT2):c.1849G>A (p.Val617Ile)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.7(POMT2):c.2206del (p.Gln736fs) rs774412117
NM_013382.7(POMT2):c.222C>G (p.His74Gln) rs1474905955
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.248+151G>A rs8177535
NM_013382.7(POMT2):c.248+6T>C rs777522318
NM_013382.7(POMT2):c.305T>C (p.Phe102Ser)
NM_013382.7(POMT2):c.334-35G>C rs199713056
NM_013382.7(POMT2):c.438+159A>T rs79436695
NM_013382.7(POMT2):c.438+82G>T rs570180158
NM_013382.7(POMT2):c.462G>A (p.Trp154Ter) rs1085307985
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013382.7(POMT2):c.656+136dup rs3217186
NM_013382.7(POMT2):c.816+257_816+258dup rs748794664
NM_013382.7(POMT2):c.816+257dup rs748794664
NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)
NM_013382.7(POMT2):c.923+184del rs560112742
NM_013382.7(POMT2):c.924-2A>C rs886044256

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