ClinVar Miner

List of variants reported as benign for congenital muscular dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
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.2003+13C>T rs4740165 0.84044
NM_013382.7(POMT2):c.*1742G>A rs12894594 0.83615
NM_013382.7(POMT2):c.*1501G>A rs4141640 0.83310
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_001077365.2(POMT1):c.*453T>C rs11005 0.70594
NM_005198.5(CHKB):c.333+10G>T rs86337 0.59693
NM_013382.7(POMT2):c.*1137G>A rs7158951 0.56341
NM_013382.7(POMT2):c.*790G>A rs7159558 0.56247
NM_013382.7(POMT2):c.*1058G>A rs11624564 0.41162
NM_013382.7(POMT2):c.*1967C>T rs11547794 0.41103
NM_013382.7(POMT2):c.*1974G>A rs11159254 0.41096
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_133642.5(LARGE1):c.-177C>T rs3210587 0.29884
NM_013382.7(POMT2):c.-64G>A rs2270421 0.24706
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_013382.7(POMT2):c.*2325A>G rs11547793 0.22179
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_013382.7(POMT2):c.*75C>T rs1055592 0.20469
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_013382.7(POMT2):c.*1516A>G rs45518539 0.14946
NM_013382.7(POMT2):c.*587G>A rs10141995 0.14409
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12282
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001079802.2(FKTN):c.*5260G>T rs2010861 0.11975
NM_001077365.2(POMT1):c.*421G>A rs10257 0.11588
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_013382.7(POMT2):c.*1748C>A rs45458096 0.11420
NM_005198.5(CHKB):c.*134T>C rs1056964 0.09639
NM_005198.5(CHKB):c.*216C>G rs3180872 0.09626
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_133642.5(LARGE1):c.*921C>G rs16992034 0.07871
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_133642.5(LARGE1):c.-397C>G rs114106875 0.07319
NM_013382.7(POMT2):c.-124G>A rs147337187 0.06001
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_013382.7(POMT2):c.-128C>T rs116224770 0.03577
NM_133642.5(LARGE1):c.*154C>A rs73399512 0.03456
NM_133642.5(LARGE1):c.*856G>A rs77663505 0.03428
NM_133642.5(LARGE1):c.*207G>A rs16992036 0.03294
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_005198.5(CHKB):c.*96G>C rs17001634 0.03056
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_133642.5(LARGE1):c.*740A>G rs116335813 0.02207
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_013382.7(POMT2):c.*1087C>T rs59725094 0.01993
NM_001077365.2(POMT1):c.*529G>A rs116005066 0.01991
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_005198.5(CHKB):c.216C>T (p.Tyr72=) rs80067609 0.01782
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_133642.5(LARGE1):c.-149G>C rs143403352 0.01106
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.*1201A>G rs11544101 0.00840
NM_005198.4(CHKB):c.-97G>C rs114094125 0.00832
NM_133642.5(LARGE1):c.-83+63217G>C rs114574565 0.00831
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_005198.5(CHKB):c.-48G>T rs41282357 0.00660
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) rs116434191 0.00658
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_001079802.2(FKTN):c.*1843A>T rs117283748 0.00026
NM_005198.5(CHKB):c.-27G>A rs367729011 0.00016
NM_001077365.2(POMT1):c.*285A>G rs4740259
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_005198.5(CHKB):c.-19G>T rs373596637
NM_170707.4(LMNA):c.-88G>T rs115800510

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