ClinVar Miner

List of variants studied for BH4-deficient hyperphenylalaninemia A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.163+14T>C rs3819331 0.10984
NM_000317.3(PTS):c.405T>C (p.Thr135=) rs59731976 0.03898
NM_000317.3(PTS):c.*60T>C rs149320135 0.00631
NM_000317.3(PTS):c.315-3T>C rs189365250 0.00436
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000317.3(PTS):c.17G>T (p.Gly6Val) rs138154701 0.00031
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000317.3(PTS):c.84-7T>G rs76064679 0.00014
NM_000317.3(PTS):c.372A>T (p.Val124=) rs139969809 0.00011
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000317.3(PTS):c.174A>G (p.Thr58=) rs745627441 0.00009
NM_000317.3(PTS):c.399C>T (p.Tyr133=) rs199603175 0.00006
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000317.3(PTS):c.318G>A (p.Thr106=) rs568878711 0.00005
NM_000317.3(PTS):c.*16T>C rs760097954 0.00004
NM_000317.3(PTS):c.144C>T (p.Gly48=) rs778754646 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000317.3(PTS):c.244-13G>C rs374541778 0.00004
NM_000317.3(PTS):c.420G>T (p.Val140=) rs146364246 0.00004
NM_000317.3(PTS):c.83+10G>C rs372809628 0.00004
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000317.3(PTS):c.151C>T (p.His51Tyr) rs780284884 0.00003
NM_000317.3(PTS):c.243_243+1dup rs866922524 0.00003
NM_000317.3(PTS):c.312G>A (p.Val104=) rs148185068 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000317.3(PTS):c.84-291A>G rs1480995114 0.00003
NM_000317.3(PTS):c.186+9A>G rs202139885 0.00002
NM_000317.3(PTS):c.192C>T (p.Asp64=) rs201156784 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NM_000277.3(PAH):c.442-5C>G rs62514909 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000317.3(PTS):c.*213A>G rs916945270 0.00001
NM_000317.3(PTS):c.104A>G (p.Glu35Gly) rs1328320990 0.00001
NM_000317.3(PTS):c.106A>G (p.Asn36Asp) rs1374807422 0.00001
NM_000317.3(PTS):c.121G>A (p.Gly41Arg) rs372852903 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.163+7G>A rs1384844563 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.187A>G (p.Ile63Val) rs778053171 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000317.3(PTS):c.211A>G (p.Met71Val) rs1296871450 0.00001
NM_000317.3(PTS):c.216T>A (p.Asn72Lys) rs200279736 0.00001
NM_000317.3(PTS):c.228C>T (p.Leu76=) rs772713545 0.00001
NM_000317.3(PTS):c.22C>T (p.Arg8Cys) rs1859865574 0.00001
NM_000317.3(PTS):c.237T>C (p.Tyr79=) rs766251710 0.00001
NM_000317.3(PTS):c.243+2T>C rs759363496 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.279G>C (p.Leu93=) rs1157712069 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.289G>A (p.Val97Met) rs750455879 0.00001
NM_000317.3(PTS):c.292C>T (p.Pro98Ser) rs1859964687 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000317.3(PTS):c.315-1G>C rs776543880 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.360A>T (p.Lys120Asn) rs1859970916 0.00001
NM_000317.3(PTS):c.367C>T (p.Pro123Ser) rs141163668 0.00001
NM_000317.3(PTS):c.379C>G (p.Leu127Val) rs1859971515 0.00001
NM_000317.3(PTS):c.45C>T (p.Ser15=) rs756084052 0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys) rs104894274 0.00001
NM_000317.3(PTS):c.66G>A (p.Ala22=) rs1859866331 0.00001
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter) rs765777664 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NC_000011.10:g.(?_112226434)_(112226536_?)del
NC_000011.10:g.(?_112226444)_(112233555_?)del
NC_000011.9:g.(?_111171709)_(112104278_?)dup
NC_000011.9:g.(?_112096088)_(112105696_?)del
NC_000011.9:g.(?_112097157)_(112104288_?)del
NC_000011.9:g.(?_112103876)_(112104288_?)del
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000317.3(PTS):c.*148C>A rs910098440
NM_000317.3(PTS):c.*58G>C rs1307423080
NM_000317.3(PTS):c.-24_9del rs2135407114
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
NM_000317.3(PTS):c.107del (p.Asn36fs) rs1859894340
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.108C>T (p.Asn36=) rs1449216377
NM_000317.3(PTS):c.117G>C (p.Leu39=) rs2135408246
NM_000317.3(PTS):c.118T>C (p.Phe40Leu) rs1555198118
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.11A>G (p.Glu4Gly)
NM_000317.3(PTS):c.120T>C (p.Phe40=)
NM_000317.3(PTS):c.123G>A (p.Gly41=)
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
NM_000317.3(PTS):c.136C>A (p.Pro46Thr) rs2135408262
NM_000317.3(PTS):c.141T>C (p.Asn47=)
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.147T>C (p.His49=)
NM_000317.3(PTS):c.148G>A (p.Gly50Arg) rs922940879
NM_000317.3(PTS):c.149G>A (p.Gly50Glu) rs2135408273
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser) rs2135408283
NM_000317.3(PTS):c.159T>C (p.Tyr53=) rs781197929
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter) rs781197929
NM_000317.3(PTS):c.163+14_163+15inv
NM_000317.3(PTS):c.163+17T>C
NM_000317.3(PTS):c.163+1G>T rs2135408292
NM_000317.3(PTS):c.163+696_163+750del rs1555198165
NM_000317.3(PTS):c.164-10C>G
NM_000317.3(PTS):c.164-2A>G rs1555198233
NM_000317.3(PTS):c.164-37dup
NM_000317.3(PTS):c.164-4A>G
NM_000317.3(PTS):c.164-4A>T rs780741396
NM_000317.3(PTS):c.164-716A>T rs1859903893
NM_000317.3(PTS):c.164-7T>A rs1555198232
NM_000317.3(PTS):c.164-7T>C rs1555198232
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000317.3(PTS):c.174_175del (p.Val59fs) rs2135408968
NM_000317.3(PTS):c.177A>G (p.Val59=)
NM_000317.3(PTS):c.180T>C (p.His60=) rs1859913195
NM_000317.3(PTS):c.186+14A>G
NM_000317.3(PTS):c.186+16A>G
NM_000317.3(PTS):c.186+17T>G
NM_000317.3(PTS):c.186+18T>A
NM_000317.3(PTS):c.186+18T>C
NM_000317.3(PTS):c.186+19T>C
NM_000317.3(PTS):c.186+19del
NM_000317.3(PTS):c.186+1G>A
NM_000317.3(PTS):c.186+20G>C
NM_000317.3(PTS):c.186+7G>A
NM_000317.3(PTS):c.186+7G>T rs2135408985
NM_000317.3(PTS):c.186G>A (p.Glu62=) rs189051075
NM_000317.3(PTS):c.187-10T>A
NM_000317.3(PTS):c.187-2A>G rs2135409169
NM_000317.3(PTS):c.187-8T>C
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
NM_000317.3(PTS):c.1A>G (p.Met1Val) rs2135407146
NM_000317.3(PTS):c.200C>A (p.Thr67Lys) rs370340361
NM_000317.3(PTS):c.208del (p.Val70fs)
NM_000317.3(PTS):c.209T>A (p.Val70Asp) rs1592880489
NM_000317.3(PTS):c.21C>T (p.Gly7=) rs2135407159
NM_000317.3(PTS):c.222T>A (p.Ala74=)
NM_000317.3(PTS):c.227_228del (p.Leu76fs) rs1555198263
NM_000317.3(PTS):c.228C>A (p.Leu76=) rs772713545
NM_000317.3(PTS):c.231A>G (p.Lys77=)
NM_000317.3(PTS):c.236_239del (p.Tyr79fs) rs1399026048
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)
NM_000317.3(PTS):c.243+10T>C rs1859918965
NM_000317.3(PTS):c.243+10T>G
NM_000317.3(PTS):c.243+11G>A
NM_000317.3(PTS):c.243+13T>C
NM_000317.3(PTS):c.243+15G>T
NM_000317.3(PTS):c.243+1G>T
NM_000317.3(PTS):c.243+4A>G
NM_000317.3(PTS):c.243+7G>A
NM_000317.3(PTS):c.243+9A>G rs200446631
NM_000317.3(PTS):c.243G>A (p.Glu81=) rs2135409211
NM_000317.3(PTS):c.244-17C>T
NM_000317.3(PTS):c.244-1G>T rs1555198451
NM_000317.3(PTS):c.244-4C>G
NM_000317.3(PTS):c.244-4C>T rs759579787
NM_000317.3(PTS):c.244-8G>A
NM_000317.3(PTS):c.244-8G>C
NM_000317.3(PTS):c.244-8G>T rs773715386
NM_000317.3(PTS):c.244-9T>C
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.248C>A (p.Ala83Glu) rs775426269
NM_000317.3(PTS):c.249G>A (p.Ala83=)
NM_000317.3(PTS):c.24T>C (p.Arg8=)
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.261C>A (p.Pro87=)
NM_000317.3(PTS):c.26G>A (p.Arg9His) rs1213277062
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
NM_000317.3(PTS):c.272A>G (p.Lys91Arg) rs761285716
NM_000317.3(PTS):c.273G>A (p.Lys91=) rs1318726823
NM_000317.3(PTS):c.274A>C (p.Asn92His) rs1859964367
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
NM_000317.3(PTS):c.277C>T (p.Leu93=)
NM_000317.3(PTS):c.281A>G (p.Asp94Gly) rs1057517811
NM_000317.3(PTS):c.291G>A (p.Val97=) rs2135410310
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys) rs1555198458
NM_000317.3(PTS):c.2T>G (p.Met1Arg) rs1859865221
NM_000317.3(PTS):c.303A>C (p.Ala101=)
NM_000317.3(PTS):c.303A>G (p.Ala101=)
NM_000317.3(PTS):c.308T>C (p.Val103Ala) rs1555198459
NM_000317.3(PTS):c.309G>A (p.Val103=)
NM_000317.3(PTS):c.312G>C (p.Val104=) rs148185068
NM_000317.3(PTS):c.314+10A>C rs2135410346
NM_000317.3(PTS):c.314+11C>T
NM_000317.3(PTS):c.314+14T>C rs377221164
NM_000317.3(PTS):c.314+14T>G
NM_000317.3(PTS):c.314+1G>C rs1555198462
NM_000317.3(PTS):c.314+20G>A
NM_000317.3(PTS):c.314+2T>C rs2135410340
NM_000317.3(PTS):c.314+7G>C
NM_000317.3(PTS):c.314+8G>A rs751944451
NM_000317.3(PTS):c.315-17G>A
NM_000317.3(PTS):c.315-17G>T
NM_000317.3(PTS):c.315-17del
NM_000317.3(PTS):c.315-1G>A
NM_000317.3(PTS):c.315-20T>C rs1566817881
NM_000317.3(PTS):c.315-2A>G rs1555198483
NM_000317.3(PTS):c.315-5T>C rs2135410431
NM_000317.3(PTS):c.315-6T>C
NM_000317.3(PTS):c.315-8T>C
NM_000317.3(PTS):c.315-8del
NM_000317.3(PTS):c.315-8dup
NM_000317.3(PTS):c.318G>T (p.Thr106=)
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
NM_000317.3(PTS):c.326A>G (p.Asn109Ser) rs1361000720
NM_000317.3(PTS):c.327T>C (p.Asn109=)
NM_000317.3(PTS):c.331G>A (p.Ala111Thr) rs1367077861
NM_000317.3(PTS):c.333T>C (p.Ala111=) rs1320913050
NM_000317.3(PTS):c.337del (p.Tyr113fs) rs1555198494
NM_000317.3(PTS):c.340A>G (p.Ile114Val) rs1555198495
NM_000317.3(PTS):c.342C>G (p.Ile114Met) rs17851590
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000317.3(PTS):c.356A>G (p.Gln119Arg)
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
NM_000317.3(PTS):c.369T>C (p.Pro123=)
NM_000317.3(PTS):c.36A>G (p.Ala12=) rs2135407170
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
NM_000317.3(PTS):c.372A>G (p.Val124=)
NM_000317.3(PTS):c.379C>T (p.Leu127Phe) rs1859971515
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter) rs1859971691
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
NM_000317.3(PTS):c.390A>G (p.Val130=) rs2135410489
NM_000317.3(PTS):c.393A>G (p.Lys131=) rs2135410494
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter) rs199603175
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.402A>C (p.Glu134Asp) rs746993982
NM_000317.3(PTS):c.405T>G (p.Thr135=) rs59731976
NM_000317.3(PTS):c.407A>G (p.Asp136Gly) rs1859972447
NM_000317.3(PTS):c.407A>T (p.Asp136Val) rs1859972447
NM_000317.3(PTS):c.420G>A (p.Val140=)
NM_000317.3(PTS):c.429A>C (p.Lys143Asn) rs1555198513
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr) rs1859973316
NM_000317.3(PTS):c.47G>A (p.Arg16His)
NM_000317.3(PTS):c.48C>T (p.Arg16=)
NM_000317.3(PTS):c.54C>A (p.Ile18=) rs749133827
NM_000317.3(PTS):c.57C>T (p.Ser19=) rs2135407185
NM_000317.3(PTS):c.63C>T (p.Ser21=)
NM_000317.3(PTS):c.65C>G (p.Ala22Gly) rs2135407190
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.73C>T (p.Arg25Ter) rs1167104933
NM_000317.3(PTS):c.74G>A (p.Arg25Gln) rs104894273
NM_000317.3(PTS):c.75A>T (p.Arg25=)
NM_000317.3(PTS):c.76T>C (p.Leu26=)
NM_000317.3(PTS):c.83+10G>A rs372809628
NM_000317.3(PTS):c.83+10G>T rs372809628
NM_000317.3(PTS):c.83+11C>T
NM_000317.3(PTS):c.83+12A>C
NM_000317.3(PTS):c.83+12A>G
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000317.3(PTS):c.83+1G>C
NM_000317.3(PTS):c.83+5G>A
NM_000317.3(PTS):c.83+5G>T
NM_000317.3(PTS):c.83+9T>C
NM_000317.3(PTS):c.83+9T>G rs2135407218
NM_000317.3(PTS):c.84-10T>A
NM_000317.3(PTS):c.84-18T>C
NM_000317.3(PTS):c.84-1G>A
NM_000317.3(PTS):c.84-2A>G
NM_000317.3(PTS):c.84-323A>T rs794726657
NM_000317.3(PTS):c.84-4T>G
NM_000317.3(PTS):c.84-5G>A rs61900919
NM_000317.3(PTS):c.84-5G>C
NM_000317.3(PTS):c.84-5G>T rs61900919
NM_000317.3(PTS):c.84-5del rs750461383
NM_000317.3(PTS):c.84-6G>T rs778736284
NM_000317.3(PTS):c.84-8T>C
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
NM_000317.3(PTS):c.9G>A (p.Thr3=) rs1460470110
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558

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