ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Institute of Human Genetics, University of Wuerzburg

Included ClinVar conditions (586):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter) rs1324430830 0.00001
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
NM_000070.3(CAPN3):c.137TCA[1] (p.Ile47del)
NM_000426.4(LAMA2):c.5460del (p.Val1821fs) rs1562530132
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
NM_001130987.2(DYSF):c.2413del (p.Gln805fs)
NM_001130987.2(DYSF):c.6173+1G>A
NM_001159699.2(FHL1):c.506G>T (p.Cys169Phe)
NM_001164508.2(NEB):c.24127_24130del (p.Glu8043fs)
NM_001164508.2(NEB):c.24486+9C>T
NM_001267550.2(TTN):c.50723del (p.Lys16908fs)
NM_001267550.2(TTN):c.54985dup (p.Ile18329fs)
NM_001267550.2(TTN):c.88068G>A (p.Trp29356Ter)
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
NM_004006.3(DMD):c.1001T>A (p.Leu334Ter)
NM_004006.3(DMD):c.1812+601A>G rs1603636710
NM_004006.3(DMD):c.3276+2T>C
NM_004006.3(DMD):c.3574G>T (p.Glu1192Ter)
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
NM_004006.3(DMD):c.9225-1G>C
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004393.6(DAG1):c.112del (p.Ala38fs)
NM_004393.6(DAG1):c.255_258delinsCC (p.Leu86fs)
NM_006790.3(MYOT):c.145_149del (p.Glu49fs)
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del) rs886044914
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr) rs1568280995
NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg) rs1204021010
NM_015295.3(SMCHD1):c.4966+5G>A rs1598426626
NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys) rs867104086
NM_020451.3(SELENON):c.872+1G>A rs2047936719

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