ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NC_000016.10:g.89282397dup rs1597453026
NC_000016.10:g.89282939dup rs1597455532
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter) rs863225296

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