ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2K by Illumina Laboratory Services, Illumina

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.*338T>G rs193003183 0.00971
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.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.*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.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.*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.1110G>T (p.Pro370=) rs766759606
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.2004-9C>T rs886063538
NM_001077365.2(POMT1):c.2067C>A (p.His689Gln) rs141895982
NM_001077365.2(POMT1):c.26T>C (p.Val9Ala) rs1945225387
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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