List of variants in gene MPV17 reported as pathogenic for mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.186+2T>C	rs147952488	0.00012
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00008
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	rs267607258	0.00006
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	rs121909721	0.00003
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	rs121909723	0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	rs121909724	0.00001
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_002437.4(MPV17):c.71-2_79delins4
NM_002437.5(MPV17):c.106C>T (p.Gln36Ter)	rs754051090
NM_002437.5(MPV17):c.122_147del (p.Arg41fs)	rs397507438
NM_002437.5(MPV17):c.277C>T (p.Gln93Ter)	rs1679496794
NM_002437.5(MPV17):c.279+1G>T	rs1572543564
NM_002437.5(MPV17):c.280-1dup	rs766160589
NM_002437.5(MPV17):c.293del (p.Pro98fs)	rs1553383480
NM_002437.5(MPV17):c.376-1G>A	rs1423840146
NM_002437.5(MPV17):c.376-2A>C	rs113055360
NM_002437.5(MPV17):c.414dup (p.Pro139fs)	rs1572542092
NM_002437.5(MPV17):c.498C>A (p.Asn166Lys)	rs121909722
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp)	rs121909725

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