List of variants in gene LOC112903839, MRPS22 studied for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020191.4(MRPS22):c.172+7G>T	rs777163637	0.00006
NM_020191.4(MRPS22):c.166G>A (p.Glu56Lys)	rs1057269467	0.00003
NM_020191.4(MRPS22):c.137T>C (p.Met46Thr)	rs1467055834	0.00002
NM_020191.4(MRPS22):c.172+11T>C	rs374112977	0.00002
NM_020191.4(MRPS22):c.90G>A (p.Gln30=)	rs772766573	0.00001
NM_020191.4(MRPS22):c.64C>G (p.Arg22Gly)	rs1176249861

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