ClinVar Miner

List of variants studied for skeletal muscle disorder by Institute of Human Genetics, University Hospital Muenster

Included ClinVar conditions (610):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050

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