ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028

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