ClinVar Miner

List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2H by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001365068.1(ASTN2):c.2806+26470del rs1588218453
NM_001365068.1(ASTN2):c.2806+26570C>T rs111033570
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447

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