List of variants in gene MILR1, POLG2 studied for Mitochondrial DNA depletion syndrome 16 (hepatic type)

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr)	rs1427463	0.29359
NM_007215.4(POLG2):c.1110+44T>C	rs7223078	0.29352
NM_007215.4(POLG2):c.1031G>A (p.Arg344Gln)	rs994126357	0.00001
NM_007215.4(POLG2):c.1191+6dup	rs60611997
NM_007215.4(POLG2):c.730C>A (p.Pro244Thr)	rs782561430

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