ClinVar Miner

List of variants studied for Myopathy, centronuclear, 5 by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.9462-27C>T rs907146 0.96294
NM_005876.5(SPEG):c.2226G>A (p.Lys742=) rs10932806 0.42459
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg) rs12464085 0.38593
NM_005876.5(SPEG):c.8368A>G (p.Arg2790Gly) rs55760516 0.37734
NM_005876.5(SPEG):c.7839G>A (p.Pro2613=) rs875098 0.25609
NM_005876.5(SPEG):c.9390G>T (p.Pro3130=) rs12473286 0.25371
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu) rs10755037 0.25298
NM_005876.5(SPEG):c.8059C>A (p.Pro2687Thr) rs13026308 0.10397
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209

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