List of variants in gene ISCU reported as uncertain significance for Hereditary myopathy with lactic acidosis due to ISCU deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)	rs558084375	0.00366
NM_213595.4(ISCU):c.418+702T>C	rs751371684	0.00007
NM_213595.4(ISCU):c.484G>T (p.Gly162Ter)	rs200756181	0.00002
NM_213595.4(ISCU):c.314C>G (p.Ala105Gly)	rs145206633	0.00001
NM_213595.4(ISCU):c.368_369del (p.Thr123fs)	rs2540780693
NM_213595.4(ISCU):c.376G>A (p.Ala126Thr)

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