List of variants in gene AFG3L2 reported as pathogenic for mitochondrial DNA depletion syndrome

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	rs139469785	0.00024
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	rs912546325	0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)	rs387906889	0.00001
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter)	rs543422544	0.00001
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)	rs1907907851
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	rs727502823
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer)	rs1907906060
NM_006796.3(AFG3L2):c.245dup (p.Asn82fs)
NM_006796.3(AFG3L2):c.634dup (p.Val212fs)	rs2143196334
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)	rs1908569446

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