ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Kids Neuroscience Centre, Sydney Children's Hospitals Network

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs) rs398123796
NM_004006.3(DMD):c.1812+5G>A rs2149136134

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