ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Knight Diagnostic Laboratories, Oregon Health and Sciences University

Included ClinVar conditions (587):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_213599.3(ANO5):c.1898+1G>A rs142027093 0.00009
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536 0.00004
NM_004409.5(DMPK):c.1324G>A (p.Val442Met) rs780659624 0.00004
NM_004006.3(DMD):c.703C>A (p.Leu235Ile) rs200177107 0.00001
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) rs779651314 0.00001
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs) rs2043824248

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