List of variants in gene ISCU studied for skeletal muscle disorder

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_213595.4(ISCU):c.20T>G (p.Phe7Cys)	rs10778648	0.86086
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.419-162C>T	rs73404738	0.02683
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)	rs558084375	0.00362
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu)	rs267607190	0.00003
NM_213595.4(ISCU):c.418+382G>C	rs767000507	0.00001
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly)	rs67681514
NM_213595.4(ISCU):c.314C>G (p.Ala105Gly)
NM_213595.4(ISCU):c.368_369del (p.Thr123fs)
NM_213595.4(ISCU):c.418+702T>C
NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)	rs750338671
NM_213595.4(ISCU):c.484G>T (p.Gly162Ter)

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