List of variants in gene LOC129934004, NFU1 studied for Multiple mitochondrial dysfunctions syndrome 1

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001002755.4(NFU1):c.62+9C>T	rs114846829	0.01785
NM_001002755.4(NFU1):c.-6A>G	rs116604978	0.00625
NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)	rs746094022	0.00017
NM_001002755.4(NFU1):c.62+10G>A	rs773351968	0.00016
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)	rs765309844	0.00005
NM_001002755.4(NFU1):c.-1G>A	rs886056267	0.00001
NM_001002755.4(NFU1):c.12G>A (p.Thr4=)	rs767315359	0.00001
NM_001002755.4(NFU1):c.-7G>A	rs1208588409
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)
NM_001002755.4(NFU1):c.62+12G>A
NM_001002755.4(NFU1):c.62+14C>G	rs370979719
NM_001002755.4(NFU1):c.62+14C>T	rs370979719
NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)	rs975310478

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