ClinVar Miner

List of variants reported as benign for Hereditary myopathy with lactic acidosis due to ISCU deficiency by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_213595.4(ISCU):c.20T>G (p.Phe7Cys) rs10778648 0.86501
NM_213595.4(ISCU):c.19T>G (p.Phe7Val) rs10778647 0.86084
NM_213595.4(ISCU):c.35C>T (p.Ala12Val) rs2287555 0.56452
NM_213595.4(ISCU):c.114+17dup rs60547936

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