ClinVar Miner

List of variants in gene NDUFV2 studied for Mitochondrial complex I deficiency

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Total variants: 14
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HGVS dbSNP
NM_021074.4(NDUFV2):c.*77C>G rs12454908
NM_021074.4(NDUFV2):c.-83C>T rs540830035
NM_021074.4(NDUFV2):c.-94A>T rs552940397
NM_021074.4(NDUFV2):c.-98G>T rs886054123
NM_021074.5(NDUFV2):c.-30G>T rs139650842
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401
NM_021074.5(NDUFV2):c.580-12T>A rs114558512
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807

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