ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Tehran Medical Genetics Laboratory

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.3085+1G>T rs1553555585
NM_003673.4(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_004006.3(DMD):c.2292+2T>G rs1557396600
NM_004006.3(DMD):c.7085_7088dup (p.Asp2364fs) rs1556962271

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