List of variants in gene DNAJC9, MRPS16 studied for Combined oxidative phosphorylation deficiency

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_016065.3(MRPS16):c.-183A>G	rs886047203	0.00001
NM_016065.4(MRPS16):c.1291_1293del	rs767465725
NM_016065.4(MRPS16):c.*1503A>G	rs2018198
NM_016065.4(MRPS16):c.*450del	rs886047196
NM_016065.4(MRPS16):c.*633dup	rs555061429
NM_016065.4(MRPS16):c.854_856del	rs886047188
NM_016065.4(MRPS16):c.-120_-118del	rs574159820
NM_016065.4(MRPS16):c.-85GT[1]	rs886047201
NM_016065.4(MRPS16):c.275-5T>G	rs763591161

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