ClinVar Miner

List of variants in gene FA2H reported as uncertain significance for Spastic paraplegia

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys) rs758814013 0.00005
NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu) rs748697810 0.00004
NM_024306.5(FA2H):c.1093G>C (p.Glu365Gln) rs150795488 0.00004
NM_024306.5(FA2H):c.529G>A (p.Val177Met) rs201500782 0.00003
NM_024306.5(FA2H):c.786+6C>T rs746907255 0.00003
NM_024306.5(FA2H):c.799G>A (p.Gly267Ser) rs762987810 0.00003
NM_024306.5(FA2H):c.1027C>T (p.His343Tyr) rs948211737 0.00002
NM_024306.5(FA2H):c.772G>A (p.Gly258Ser) rs774693133 0.00002
NM_024306.5(FA2H):c.794T>G (p.Phe265Cys) rs149133141 0.00002
NM_024306.5(FA2H):c.1055C>T (p.Thr352Ile) rs375479162 0.00001
NM_024306.5(FA2H):c.335C>T (p.Pro112Leu) rs749305581 0.00001
NM_024306.5(FA2H):c.451A>G (p.Arg151Gly) rs753898846 0.00001
NM_024306.5(FA2H):c.635A>G (p.Lys212Arg) rs759577964 0.00001
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg) rs775750642 0.00001
NM_024306.5(FA2H):c.672C>A (p.Phe224Leu) rs376180814 0.00001
NM_024306.5(FA2H):c.701A>C (p.His234Pro) rs1961773594 0.00001
NM_024306.5(FA2H):c.718A>G (p.Met240Val) rs367933620 0.00001
NM_024306.5(FA2H):c.763G>A (p.Val255Ile) rs773459488 0.00001
NM_024306.5(FA2H):c.782A>G (p.His261Arg) rs761645282 0.00001
NM_024306.5(FA2H):c.795C>T (p.Phe265=) rs886043274 0.00001
NM_024306.5(FA2H):c.805C>T (p.Arg269Cys) rs943671314 0.00001
NM_024306.5(FA2H):c.874C>G (p.Leu292Val) rs772704885 0.00001
NM_024306.5(FA2H):c.957C>G (p.His319Gln) rs1293252892 0.00001
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu) rs373010581 0.00001
NM_024306.5(FA2H):c.1028A>G (p.His343Arg) rs995971156
NM_024306.5(FA2H):c.1036T>G (p.Ser346Ala) rs2144601409
NM_024306.5(FA2H):c.1084C>T (p.Leu362Phe) rs2144598918
NM_024306.5(FA2H):c.1101_1102del (p.His368fs) rs1961640625
NM_024306.5(FA2H):c.244G>C (p.Val82Leu)
NM_024306.5(FA2H):c.317C>G (p.Thr106Arg)
NM_024306.5(FA2H):c.319G>A (p.Asp107Asn) rs1962260707
NM_024306.5(FA2H):c.325G>T (p.Ala109Ser)
NM_024306.5(FA2H):c.347T>A (p.Val116Glu)
NM_024306.5(FA2H):c.363+3A>G
NM_024306.5(FA2H):c.363+5C>A
NM_024306.5(FA2H):c.364-3C>T rs1961983397
NM_024306.5(FA2H):c.401T>G (p.Val134Gly) rs199659429
NM_024306.5(FA2H):c.426_428del (p.Asp142del) rs1961980881
NM_024306.5(FA2H):c.448A>G (p.Thr150Ala)
NM_024306.5(FA2H):c.461G>A (p.Arg154His) rs1204169977
NM_024306.5(FA2H):c.461G>T (p.Arg154Leu) rs1204169977
NM_024306.5(FA2H):c.589C>G (p.Arg197Gly) rs1463651673
NM_024306.5(FA2H):c.632C>T (p.Pro211Leu) rs1344911374
NM_024306.5(FA2H):c.646C>G (p.Pro216Ala) rs1961775069
NM_024306.5(FA2H):c.662T>G (p.Leu221Arg)
NM_024306.5(FA2H):c.682C>T (p.Leu228Phe)
NM_024306.5(FA2H):c.685_687del (p.Ile229del) rs1567633884
NM_024306.5(FA2H):c.709C>G (p.Leu237Val)
NM_024306.5(FA2H):c.776A>G (p.Gln259Arg)
NM_024306.5(FA2H):c.790C>T (p.Pro264Ser)
NM_024306.5(FA2H):c.791C>T (p.Pro264Leu)
NM_024306.5(FA2H):c.810G>A (p.Leu270=) rs1961706796
NM_024306.5(FA2H):c.820C>A (p.Pro274Thr)
NM_024306.5(FA2H):c.820C>G (p.Pro274Ala)
NM_024306.5(FA2H):c.867G>C (p.Gln289His)
NM_024306.5(FA2H):c.893G>A (p.Gly298Asp) rs573835278
NM_024306.5(FA2H):c.939G>T (p.Met313Ile)
NM_024306.5(FA2H):c.941_945del (p.Thr314fs) rs1961700181
NM_024306.5(FA2H):c.970C>T (p.His324Tyr)
NM_024306.5(FA2H):c.977G>T (p.Gly326Val)

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