ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2H by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412

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