ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2H by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.979A>G (p.Met327Val) rs373287765 0.00009
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.1040A>G (p.Glu347Gly)

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