ClinVar Miner

List of variants in gene ATP5F1A reported as uncertain significance by GeneDx

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly) rs148515768 0.00047
NM_004046.6(ATP5F1A):c.112G>A (p.Ala38Thr) rs189208584 0.00031
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His) rs146467617 0.00023
NM_004046.6(ATP5F1A):c.503C>T (p.Thr168Met) rs144159915 0.00011
NM_004046.6(ATP5F1A):c.172C>T (p.Arg58Cys) rs750527887 0.00005
NM_004046.6(ATP5F1A):c.295T>C (p.Ser99Pro) rs745896289 0.00002
NM_004046.6(ATP5F1A):c.1512T>G (p.Ile504Met) rs753837503 0.00001
NM_004046.6(ATP5F1A):c.1019A>T (p.Asp340Val)
NM_004046.6(ATP5F1A):c.1025T>G (p.Phe342Cys)
NM_004046.6(ATP5F1A):c.1028A>G (p.Tyr343Cys) rs779987146
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004046.6(ATP5F1A):c.1162A>G (p.Ile388Val) rs2144178017
NM_004046.6(ATP5F1A):c.1171G>A (p.Gly391Arg) rs2144177979
NM_004046.6(ATP5F1A):c.1177-2A>T
NM_004046.6(ATP5F1A):c.1318T>C (p.Tyr440His)
NM_004046.6(ATP5F1A):c.1391G>C (p.Gly464Ala)
NM_004046.6(ATP5F1A):c.1430-11T>C
NM_004046.6(ATP5F1A):c.1469C>T (p.Ala490Val)
NM_004046.6(ATP5F1A):c.1541A>G (p.His514Arg) rs2512297969
NM_004046.6(ATP5F1A):c.1577T>A (p.Ile526Asn) rs2512297851
NM_004046.6(ATP5F1A):c.1580+1G>A
NM_004046.6(ATP5F1A):c.1657G>A (p.Ala553Thr) rs2512297330
NM_004046.6(ATP5F1A):c.200A>T (p.Asp67Val) rs2512314494
NM_004046.6(ATP5F1A):c.286G>A (p.Val96Ile)
NM_004046.6(ATP5F1A):c.308A>T (p.Lys103Met) rs2144197566
NM_004046.6(ATP5F1A):c.335A>G (p.Asp112Gly)
NM_004046.6(ATP5F1A):c.472A>G (p.Ile158Val)
NM_004046.6(ATP5F1A):c.483+2T>C rs1555695396
NM_004046.6(ATP5F1A):c.511C>T (p.Arg171Ter)
NM_004046.6(ATP5F1A):c.544C>T (p.Arg182Ter)
NM_004046.6(ATP5F1A):c.551C>T (p.Ser184Leu)
NM_004046.6(ATP5F1A):c.563_564inv (p.Pro188Leu)
NM_004046.6(ATP5F1A):c.641G>A (p.Arg214Gln) rs2512309465
NM_004046.6(ATP5F1A):c.650G>C (p.Gly217Ala)
NM_004046.6(ATP5F1A):c.674C>A (p.Thr225Lys)
NM_004046.6(ATP5F1A):c.73G>T (p.Ala25Ser)
NM_004046.6(ATP5F1A):c.798A>T (p.Ala266=)
NM_004046.6(ATP5F1A):c.843T>A (p.Asp281Glu)
NM_004046.6(ATP5F1A):c.905A>C (p.Asp302Ala)

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