ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2H by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001365068.1(ASTN2):c.2806+26381A>G rs752860146
NM_001365068.1(ASTN2):c.2806+26570C>T rs111033570
NM_001365068.1(ASTN2):c.2806+26604_2806+26606dup rs1588218148
NM_001365068.1(ASTN2):c.2806+26848C>T rs121434447
NM_001365068.1(ASTN2):c.2806+27157A>C rs762907412

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