ClinVar Miner

List of variants in gene MRPS34 studied for Combined oxidative phosphorylation deficiency 32

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_023936.2(MRPS34):c.322-10G>A	rs563189672	0.00015
NM_023936.2(MRPS34):c.562G>A (p.Glu188Lys)	rs1313473522	0.00001
NM_023936.2(MRPS34):c.404T>C (p.Met135Thr)
NM_023936.2(MRPS34):c.532C>T (p.Arg178Ter)

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