List of variants in gene NDUFV2 reported as uncertain significance for congenital structural myopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=)	rs143576401	0.00083
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=)	rs201074358	0.00006
NM_021074.5(NDUFV2):c.*57C>T	rs977177603	0.00001
NM_021074.5(NDUFV2):c.120+1G>C	rs749991624	0.00001
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter)	rs771236417	0.00001
NM_021074.5(NDUFV2):c.*51A>C	rs1188007874
NM_021074.5(NDUFV2):c.301-10A>G	rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr)	rs886054124
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu)	rs2077948602
NM_021074.5(NDUFV2):c.469+12A>G	rs538112556
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=)	rs1372175274

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