ClinVar Miner

List of variants studied for Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001318525.2(TRAPPC2L):c.33+2T>G rs766956834 0.00004
NM_001318525.2(TRAPPC2L):c.350A>G (p.Asn117Ser) rs1392968102 0.00002
NM_001318525.2(TRAPPC2L):c.33G>A (p.Glu11=) rs756746301 0.00001

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