ClinVar Miner

List of variants studied for Sarcotubular myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 5
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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.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412

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