List of variants in gene combination LOC130062145, NDUFV2 reported as uncertain significance for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_021074.5(NDUFV2):c.-30G>T	rs139650842	0.00198
NM_021074.5(NDUFV2):c.-13A>G	rs369562850	0.00182
NM_021074.4(NDUFV2):c.-94A>T	rs552940397	0.00063
NM_021074.4(NDUFV2):c.-83C>T	rs540830035	0.00019
NM_021074.4(NDUFV2):c.-98G>T	rs886054123	0.00001
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=)	rs547252886	0.00001
NM_021074.5(NDUFV2):c.-39G>T	rs748188888
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)	rs559485096
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu)	rs1035730836

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