List of variants in gene MRPL3 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_007208.4(MRPL3):c.862T>C (p.Ser288Pro)	rs143788120	0.00027
NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser)	rs758835610	0.00001
NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)	rs387906962	0.00001
NM_007208.4(MRPL3):c.379T>C (p.Cys127Arg)
NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)
NM_007208.4(MRPL3):c.93-2A>C

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