ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2H by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001365068.1(ASTN2):c.2806+26828T>A rs747266069
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300

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