ClinVar Miner

List of variants in gene AHCY studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_000687.3(AHCY):c.-124C>A rs819146 0.71726
NM_000687.4(AHCY):c.28+1345G>A rs819147 0.71293
NM_000687.4(AHCY):c.973-7C>T rs17091705 0.11442
NM_000687.4(AHCY):c.767-37C>G rs7271501 0.11434
NM_000687.4(AHCY):c.*679A>T rs4239 0.11416
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_000687.4(AHCY):c.-34C>T rs57344541 0.00825
NM_000687.4(AHCY):c.1168-14T>C rs60143059 0.00588
NM_000687.4(AHCY):c.28+7C>T rs201479827 0.00410
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg) rs41301825 0.00406
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_000687.4(AHCY):c.744C>T (p.Asn248=) rs150175934 0.00210
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.29-16C>T rs150128901 0.00052
NM_000687.4(AHCY):c.390C>T (p.Asp130=) rs143931269 0.00050
NM_000687.4(AHCY):c.636C>T (p.Ala212=) rs141172613 0.00041
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.471C>T (p.Thr157=) rs192590509 0.00019
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.428A>G (p.Tyr143Cys) rs121918608 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.945C>T (p.Ala315=) rs368716358 0.00007
NM_000687.4(AHCY):c.979C>T (p.Arg327Trp) rs144383493 0.00007
NM_000687.4(AHCY):c.29-5C>T rs375669228 0.00006
NM_000687.4(AHCY):c.663T>C (p.Tyr221=) rs58020044 0.00006
NM_000687.4(AHCY):c.393C>T (p.Asp131=) rs553442034 0.00004
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.321C>T (p.Asp107=) rs760451324 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.1168-16C>T rs776065604 0.00002
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746 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.1015C>T (p.Leu339=) rs373915089 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.1236G>A (p.Lys412=) rs756185456 0.00001
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) rs369428934 0.00001
NM_000687.4(AHCY):c.219+8C>T rs768480898 0.00001
NM_000687.4(AHCY):c.309G>A (p.Lys103=) rs201902693 0.00001
NM_000687.4(AHCY):c.317C>T (p.Thr106Met) rs910267027 0.00001
NM_000687.4(AHCY):c.558+13G>T rs2297750 0.00001
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr) rs754753419 0.00001
NM_000687.4(AHCY):c.639C>T (p.Gly213=) rs757357954 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
NM_000687.4(AHCY):c.942C>T (p.Asn314=) rs767550579 0.00001
NC_000020.10:g.(?_32891029)_(32891076_?)dup
NM_000687.3(AHCY):c.-107G>A rs886056637
NM_000687.4(AHCY):c.*301T>G rs13245
NM_000687.4(AHCY):c.*678C>T rs371150068
NM_000687.4(AHCY):c.-50A>C rs199791897
NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys) rs565486330
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.1029G>T (p.Arg343=)
NM_000687.4(AHCY):c.104T>C (p.Met35Thr) rs770343325
NM_000687.4(AHCY):c.1068C>T (p.Phe356=)
NM_000687.4(AHCY):c.106C>T (p.Arg36Trp)
NM_000687.4(AHCY):c.1086C>T (p.Phe362=)
NM_000687.4(AHCY):c.1089C>T (p.Thr363=)
NM_000687.4(AHCY):c.1096G>A (p.Val366Met)
NM_000687.4(AHCY):c.1103C>T (p.Ala368Val)
NM_000687.4(AHCY):c.1104G>A (p.Ala368=)
NM_000687.4(AHCY):c.1110C>A (p.Ile370=)
NM_000687.4(AHCY):c.1110C>T (p.Ile370=)
NM_000687.4(AHCY):c.1114C>T (p.Leu372=)
NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)
NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)
NM_000687.4(AHCY):c.1140C>T (p.Pro380=)
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+14_1167+16del rs766042035
NM_000687.4(AHCY):c.1167+15C>A rs1229673205
NM_000687.4(AHCY):c.1168-9T>C rs2122711427
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.120G>A (p.Ser40=)
NM_000687.4(AHCY):c.1210G>A (p.Val404Met)
NM_000687.4(AHCY):c.1215G>A (p.Lys405=)
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.1261T>C (p.Cys421Arg)
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.129G>A (p.Lys43=)
NM_000687.4(AHCY):c.137A>C (p.Lys46Thr)
NM_000687.4(AHCY):c.141C>T (p.Gly47=)
NM_000687.4(AHCY):c.142G>A (p.Ala48Thr)
NM_000687.4(AHCY):c.145del (p.Arg49fs)
NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)
NM_000687.4(AHCY):c.170C>T (p.Thr57Ile)
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.18C>T (p.Pro6=) rs1601690050
NM_000687.4(AHCY):c.199C>T (p.Leu67Phe)
NM_000687.4(AHCY):c.201C>T (p.Leu67=)
NM_000687.4(AHCY):c.202G>A (p.Val68Ile)
NM_000687.4(AHCY):c.206C>A (p.Thr69Asn)
NM_000687.4(AHCY):c.219+13G>A
NM_000687.4(AHCY):c.219+15T>C
NM_000687.4(AHCY):c.219+18A>G rs2122783447
NM_000687.4(AHCY):c.220-4C>G
NM_000687.4(AHCY):c.241A>G (p.Ile81Val) rs2036496036
NM_000687.4(AHCY):c.255G>A (p.Gln85=)
NM_000687.4(AHCY):c.263C>T (p.Ala88Val)
NM_000687.4(AHCY):c.264G>A (p.Ala88=)
NM_000687.4(AHCY):c.267G>A (p.Ala89=)
NM_000687.4(AHCY):c.273C>T (p.Ala91=)
NM_000687.4(AHCY):c.28+14C>T
NM_000687.4(AHCY):c.28+15C>G
NM_000687.4(AHCY):c.28+17G>T
NM_000687.4(AHCY):c.28+20del
NM_000687.4(AHCY):c.28+2T>G
NM_000687.4(AHCY):c.29-15T>C
NM_000687.4(AHCY):c.295+11C>T
NM_000687.4(AHCY):c.296-12C>T
NM_000687.4(AHCY):c.296-13A>G
NM_000687.4(AHCY):c.296-4C>G
NM_000687.4(AHCY):c.297G>A (p.Val99=)
NM_000687.4(AHCY):c.318G>A (p.Thr106=)
NM_000687.4(AHCY):c.322G>A (p.Glu108Lys)
NM_000687.4(AHCY):c.335G>T (p.Trp112Leu)
NM_000687.4(AHCY):c.336G>A (p.Trp112Ter) rs121918607
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.366C>T (p.Asp122=)
NM_000687.4(AHCY):c.36C>T (p.Ile12=)
NM_000687.4(AHCY):c.373C>G (p.Leu125Val)
NM_000687.4(AHCY):c.373del (p.Leu125fs)
NM_000687.4(AHCY):c.394G>A (p.Gly132Arg)
NM_000687.4(AHCY):c.399C>T (p.Gly133=)
NM_000687.4(AHCY):c.39C>T (p.Gly13=)
NM_000687.4(AHCY):c.432G>A (p.Pro144=)
NM_000687.4(AHCY):c.43G>A (p.Ala15Thr)
NM_000687.4(AHCY):c.443C>T (p.Pro148Leu)
NM_000687.4(AHCY):c.445+12G>A
NM_000687.4(AHCY):c.445+17A>G
NM_000687.4(AHCY):c.446-13C>G
NM_000687.4(AHCY):c.446-17T>C
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.474G>A (p.Thr158=)
NM_000687.4(AHCY):c.475A>G (p.Thr159Ala)
NM_000687.4(AHCY):c.526C>T (p.Pro176Ser)
NM_000687.4(AHCY):c.546C>T (p.Asp182=) rs1363332391
NM_000687.4(AHCY):c.549C>T (p.Ser183=)
NM_000687.4(AHCY):c.552C>T (p.Val184=)
NM_000687.4(AHCY):c.558+1_558+2delinsCG
NM_000687.4(AHCY):c.558+20C>T
NM_000687.4(AHCY):c.558+4_558+27del
NM_000687.4(AHCY):c.559-13_559-12dup
NM_000687.4(AHCY):c.570C>T (p.Asp190=)
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.63C>T (p.Ala21=)
NM_000687.4(AHCY):c.647C>T (p.Ala216Val)
NM_000687.4(AHCY):c.648G>A (p.Ala216=)
NM_000687.4(AHCY):c.648G>C (p.Ala216=)
NM_000687.4(AHCY):c.649G>A (p.Val217Met)
NM_000687.4(AHCY):c.64C>T (p.Leu22=)
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.690G>A (p.Gln230=)
NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)
NM_000687.4(AHCY):c.6del (p.Asp3fs)
NM_000687.4(AHCY):c.705C>T (p.Phe235=)
NM_000687.4(AHCY):c.70A>G (p.Ile24Val)
NM_000687.4(AHCY):c.712C>T (p.Arg238Cys)
NM_000687.4(AHCY):c.714C>T (p.Arg238=)
NM_000687.4(AHCY):c.715G>A (p.Val239Ile)
NM_000687.4(AHCY):c.731T>C (p.Ile244Thr)
NM_000687.4(AHCY):c.763del (p.Glu255fs)
NM_000687.4(AHCY):c.766+13A>G
NM_000687.4(AHCY):c.766+14A>G
NM_000687.4(AHCY):c.766+2T>G rs1348839036
NM_000687.4(AHCY):c.766+7T>C
NM_000687.4(AHCY):c.767-8_767-7del rs61664915
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.81C>T (p.Asn27=)
NM_000687.4(AHCY):c.822C>T (p.Thr274=)
NM_000687.4(AHCY):c.825C>T (p.Thr275=)
NM_000687.4(AHCY):c.82G>A (p.Glu28Lys)
NM_000687.4(AHCY):c.841A>G (p.Ile281Val)
NM_000687.4(AHCY):c.854+17G>A
NM_000687.4(AHCY):c.854+18G>A
NM_000687.4(AHCY):c.854+19dup rs753303222
NM_000687.4(AHCY):c.854G>A (p.Arg285Gln)
NM_000687.4(AHCY):c.855-9G>C
NM_000687.4(AHCY):c.882del (p.Ile295fs)
NM_000687.4(AHCY):c.883A>G (p.Ile295Val)
NM_000687.4(AHCY):c.90G>A (p.Pro30=)
NM_000687.4(AHCY):c.90G>C (p.Pro30=)
NM_000687.4(AHCY):c.910G>A (p.Val304Met)
NM_000687.4(AHCY):c.910G>T (p.Val304Leu)
NM_000687.4(AHCY):c.924C>G (p.Val308=)
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.954G>A (p.Lys318=)
NM_000687.4(AHCY):c.963C>A (p.Ile321=)
NM_000687.4(AHCY):c.969G>A (p.Pro323=)
NM_000687.4(AHCY):c.972+13C>T
NM_000687.4(AHCY):c.972+1G>A
NM_000687.4(AHCY):c.973-10C>T
NM_000687.4(AHCY):c.973-17G>C
NM_000687.4(AHCY):c.973-17G>T
NM_000687.4(AHCY):c.973-6G>A
NM_000687.4(AHCY):c.973-6G>C
NM_000687.4(AHCY):c.97A>G (p.Met33Val) rs1555835400
NM_000687.4(AHCY):c.980G>A (p.Arg327Gln)
NM_000687.4(AHCY):c.981G>A (p.Arg327=) rs1338041155
NM_000687.4(AHCY):c.986G>A (p.Arg329Gln)
NM_000687.4(AHCY):c.987G>A (p.Arg329=)

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