ClinVar Miner

List of variants in gene POMT1 studied for Autosomal recessive limb-girdle muscular dystrophy type 2K

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.*278T>C rs10793885 0.88104
NM_001077365.2(POMT1):c.*348C>T rs7857419 0.87122
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) rs12115566 0.01621
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653 0.01037
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383 0.01019
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
NM_001077365.2(POMT1):c.-6T>G rs62620173 0.00840
NM_001077365.2(POMT1):c.1826-6C>A rs140258585 0.00816
NM_001077365.2(POMT1):c.1826-7C>A rs148180760 0.00816
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001077365.2(POMT1):c.*206A>G rs111470256 0.00610
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_001077365.2(POMT1):c.*635T>G rs112845474 0.00260
NM_001077365.2(POMT1):c.*25C>T rs115818625 0.00230
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_007171.3(POMT1):c.*694G>A rs550900373 0.00133
NM_001077365.2(POMT1):c.-168G>C rs556267289 0.00127
NM_001077365.2(POMT1):c.1486+14G>A rs142995404 0.00118
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001077365.2(POMT1):c.*182T>C rs535816758 0.00091
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094 0.00071
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001077365.2(POMT1):c.*613C>T rs551579745 0.00037
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_001077365.2(POMT1):c.*614G>A rs373680261 0.00017
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu) rs200508760 0.00015
NM_001077365.2(POMT1):c.606-15G>C rs201897506 0.00015
NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) rs190112934 0.00014
NM_001077365.2(POMT1):c.1461C>T (p.Asn487=) rs373482514 0.00012
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_001077365.2(POMT1):c.*105G>A rs886063539 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001077365.2(POMT1):c.*448C>T rs373799176 0.00009
NM_001077365.2(POMT1):c.*591C>T rs1012682271 0.00009
NM_001077365.2(POMT1):c.803G>A (p.Arg268His) rs369644530 0.00009
NM_001077365.2(POMT1):c.1486+10C>T rs373393733 0.00008
NM_001077365.2(POMT1):c.*37G>A rs201474628 0.00006
NM_001077365.2(POMT1):c.*68C>T rs773474667 0.00004
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.-30G>A rs780382988 0.00003
NM_001077365.2(POMT1):c.1084C>A (p.His362Asn) rs141229412 0.00003
NM_001077365.2(POMT1):c.1488C>T (p.Ser496=) rs727503872 0.00003
NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) rs200179598 0.00003
NM_001077365.2(POMT1):c.757G>A (p.Val253Ile) rs772590277 0.00003
NM_007171.3(POMT1):c.-195C>T rs886063536 0.00003
NM_007171.3(POMT1):c.-196G>T rs886063535 0.00003
NM_001077365.2(POMT1):c.*64T>A rs892418533 0.00002
NM_001077365.2(POMT1):c.*693C>T rs886063541 0.00002
NM_001077365.2(POMT1):c.36G>A (p.Thr12=) rs201262353 0.00002
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn) rs754611085 0.00002
NM_001077365.2(POMT1):c.1101C>T (p.Ser367=) rs771523115 0.00001
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) rs397515400 0.00001
NM_001077365.2(POMT1):c.1199G>C (p.Ser400Thr) rs149575164 0.00001
NM_001077365.2(POMT1):c.1357G>A (p.Val453Ile) rs1008021925 0.00001
NM_001077365.2(POMT1):c.1765G>A (p.Ala589Thr) rs747138675 0.00001
NM_001077365.2(POMT1):c.1867G>A (p.Gly623Ser) rs756303645 0.00001
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) rs119462982 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001077365.2(POMT1):c.*330G>A rs556148765
NM_001077365.2(POMT1):c.*370C>G rs1950358020
NM_001077365.2(POMT1):c.*381G>A rs57955153
NM_001077365.2(POMT1):c.-83C>T rs550740786
NM_001077365.2(POMT1):c.1083-7C>G rs1428085460
NM_001077365.2(POMT1):c.110C>T (p.Pro37Leu)
NM_001077365.2(POMT1):c.1110G>T (p.Pro370=) rs766759606
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.1249C>T (p.Pro417Ser) rs1948110753
NM_001077365.2(POMT1):c.1311G>A (p.Lys437=) rs1949210371
NM_001077365.2(POMT1):c.1323A>C (p.Ser441=) rs753403833
NM_001077365.2(POMT1):c.1581G>A (p.Leu527=) rs1378023866
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) rs397514501
NM_001077365.2(POMT1):c.459G>A (p.Met153Ile) rs1184495903
NM_001077365.2(POMT1):c.699+18G>C rs886063537
NM_001077365.2(POMT1):c.927C>T (p.Asn309=) rs753694905

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