List of variants in gene AHCY reported as uncertain significance for amino acid metabolism disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 115

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HGVS	dbSNP	gnomAD frequency
NM_000687.4(AHCY):c.-34C>T	rs57344541	0.00825
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)	rs116846245	0.00152
NM_000687.4(AHCY):c.-63A>G	rs58942263	0.00108
NM_000687.4(AHCY):c.219+7C>G	rs200332864	0.00098
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)	rs139344907	0.00067
NM_000687.4(AHCY):c.390C>T (p.Asp130=)	rs143931269	0.00050
NM_000687.4(AHCY):c.882C>G (p.Ala294=)	rs376464023	0.00030
NM_000687.4(AHCY):c.855-8C>T	rs370059571	0.00029
NM_000687.4(AHCY):c.1001G>A (p.Arg334His)	rs201871637	0.00026
NM_000687.4(AHCY):c.*583G>C	rs552690185	0.00020
NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys)	rs150066229	0.00018
NM_000687.4(AHCY):c.918C>T (p.Ile306=)	rs146829385	0.00013
NM_000687.4(AHCY):c.*181C>T	rs759056638	0.00010
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys)	rs145239391	0.00009
NM_000687.4(AHCY):c.698G>A (p.Arg233Gln)	rs573146559	0.00009
NM_000687.4(AHCY):c.769T>C (p.Tyr257His)	rs140810436	0.00007
NM_000687.4(AHCY):c.979C>T (p.Arg327Trp)	rs144383493	0.00007
NM_000687.4(AHCY):c.*621T>C	rs886056634	0.00003
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)	rs773162208	0.00003
NM_000687.4(AHCY):c.29-4G>A	rs774846394	0.00003
NM_000687.4(AHCY):c.445+11C>T	rs375253690	0.00003
NM_000687.4(AHCY):c.559-13C>G	rs763399683	0.00003
NM_000687.4(AHCY):c.-40C>T	rs759516966	0.00002
NM_000687.4(AHCY):c.985C>T (p.Arg329Trp)	rs530155117	0.00002
NM_000687.4(AHCY):c.*112G>A	rs2035978307	0.00001
NM_000687.4(AHCY):c.*417A>T	rs2035968636	0.00001
NM_000687.4(AHCY):c.*427T>C	rs574438360	0.00001
NM_000687.4(AHCY):c.110A>T (p.Glu37Val)	rs746513037	0.00001
NM_000687.4(AHCY):c.1190C>T (p.Ala397Val)	rs202122223	0.00001
NM_000687.4(AHCY):c.219+8C>T	rs768480898	0.00001
NM_000687.4(AHCY):c.317C>T (p.Thr106Met)	rs910267027	0.00001
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr)	rs754753419	0.00001
NM_000687.4(AHCY):c.718A>G (p.Ile240Val)	rs747198963	0.00001
NM_000687.4(AHCY):c.808A>G (p.Asn270Asp)	rs756816446	0.00001
NM_000687.4(AHCY):c.875A>G (p.Asp292Gly)	rs1234006772	0.00001
NM_000687.4(AHCY):c.936C>T (p.Asn312=)	rs528770765	0.00001
NC_000020.10:g.(?_32891029)_(32891076_?)dup
NM_000687.3(AHCY):c.-107G>A	rs886056637
NM_000687.4(AHCY):c.*678C>T	rs371150068
NM_000687.4(AHCY):c.-50A>C	rs199791897
NM_000687.4(AHCY):c.1004G>A (p.Arg335His)
NM_000687.4(AHCY):c.1009A>G (p.Ile337Val)	rs771507250
NM_000687.4(AHCY):c.1019C>G (p.Ala340Gly)	rs1205008917
NM_000687.4(AHCY):c.104T>C (p.Met35Thr)	rs770343325
NM_000687.4(AHCY):c.1096G>A (p.Val366Met)
NM_000687.4(AHCY):c.1103C>T (p.Ala368Val)
NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)
NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)
NM_000687.4(AHCY):c.1142T>C (p.Val381Ala)	rs759021534
NM_000687.4(AHCY):c.1160C>T (p.Pro387Leu)
NM_000687.4(AHCY):c.1167+15C>A	rs1229673205
NM_000687.4(AHCY):c.1170G>A (p.Leu390=)	rs886056636
NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp)	rs886056635
NM_000687.4(AHCY):c.1210G>A (p.Val404Met)
NM_000687.4(AHCY):c.1223A>G (p.Lys408Arg)
NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)
NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser)	rs1194152113
NM_000687.4(AHCY):c.1282G>A (p.Asp428Asn)
NM_000687.4(AHCY):c.1292G>A (p.Arg431His)
NM_000687.4(AHCY):c.1296C>G (p.Tyr432Ter)
NM_000687.4(AHCY):c.137A>C (p.Lys46Thr)
NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)
NM_000687.4(AHCY):c.172G>T (p.Val58Leu)
NM_000687.4(AHCY):c.176A>T (p.Glu59Val)
NM_000687.4(AHCY):c.184G>A (p.Val62Ile)
NM_000687.4(AHCY):c.199C>T (p.Leu67Phe)
NM_000687.4(AHCY):c.202G>A (p.Val68Ile)
NM_000687.4(AHCY):c.206C>A (p.Thr69Asn)
NM_000687.4(AHCY):c.241A>G (p.Ile81Val)	rs2036496036
NM_000687.4(AHCY):c.263C>T (p.Ala88Val)
NM_000687.4(AHCY):c.335G>T (p.Trp112Leu)
NM_000687.4(AHCY):c.34A>G (p.Ile12Val)
NM_000687.4(AHCY):c.350C>A (p.Thr117Asn)
NM_000687.4(AHCY):c.366C>G (p.Asp122Glu)	rs141935523
NM_000687.4(AHCY):c.373C>G (p.Leu125Val)
NM_000687.4(AHCY):c.394G>A (p.Gly132Arg)
NM_000687.4(AHCY):c.43G>A (p.Ala15Thr)
NM_000687.4(AHCY):c.443C>T (p.Pro148Leu)
NM_000687.4(AHCY):c.457A>G (p.Ile153Val)
NM_000687.4(AHCY):c.468G>C (p.Glu156Asp)	rs1568799740
NM_000687.4(AHCY):c.46G>C (p.Ala16Pro)
NM_000687.4(AHCY):c.475A>G (p.Thr159Ala)
NM_000687.4(AHCY):c.526C>T (p.Pro176Ser)
NM_000687.4(AHCY):c.558+4_558+27del
NM_000687.4(AHCY):c.578A>G (p.Tyr193Cys)	rs772905203
NM_000687.4(AHCY):c.586C>T (p.Arg196Trp)	rs2122760447
NM_000687.4(AHCY):c.5C>A (p.Ser2Tyr)
NM_000687.4(AHCY):c.647C>T (p.Ala216Val)
NM_000687.4(AHCY):c.659G>T (p.Gly220Val)
NM_000687.4(AHCY):c.662A>G (p.Tyr221Cys)
NM_000687.4(AHCY):c.67G>C (p.Asp23His)
NM_000687.4(AHCY):c.685G>A (p.Ala229Thr)	rs767066341
NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)
NM_000687.4(AHCY):c.70A>G (p.Ile24Val)
NM_000687.4(AHCY):c.712C>T (p.Arg238Cys)
NM_000687.4(AHCY):c.715G>A (p.Val239Ile)
NM_000687.4(AHCY):c.731T>C (p.Ile244Thr)
NM_000687.4(AHCY):c.766+2T>G	rs1348839036
NM_000687.4(AHCY):c.773A>C (p.Glu258Ala)
NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)
NM_000687.4(AHCY):c.793G>A (p.Ala265Thr)
NM_000687.4(AHCY):c.802G>A (p.Glu268Lys)	rs2122758097
NM_000687.4(AHCY):c.82G>A (p.Glu28Lys)
NM_000687.4(AHCY):c.841A>G (p.Ile281Val)
NM_000687.4(AHCY):c.854G>A (p.Arg285Gln)
NM_000687.4(AHCY):c.883A>G (p.Ile295Val)
NM_000687.4(AHCY):c.910G>A (p.Val304Met)
NM_000687.4(AHCY):c.910G>T (p.Val304Leu)
NM_000687.4(AHCY):c.937G>A (p.Glu313Lys)
NM_000687.4(AHCY):c.943G>A (p.Ala315Thr)
NM_000687.4(AHCY):c.943G>T (p.Ala315Ser)
NM_000687.4(AHCY):c.946G>A (p.Val316Met)
NM_000687.4(AHCY):c.97A>G (p.Met33Val)	rs1555835400
NM_000687.4(AHCY):c.980G>A (p.Arg327Gln)
NM_000687.4(AHCY):c.986G>A (p.Arg329Gln)

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