List of variants in gene PTS studied for BH4-deficient hyperphenylalaninemia A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 225

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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_000317.3(PTS):c.195T>C (p.Pro65=)	rs143472856	0.00026
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.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_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.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.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.(?_112096088)_(112105696_?)del
NC_000011.9:g.(?_112097157)_(112104288_?)del
NC_000011.9:g.(?_112103876)_(112104288_?)del
NM_000317.3(PTS):c.*148C>A	rs910098440
NM_000317.3(PTS):c.*58G>C	rs1307423080
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.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.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.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.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.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.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.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.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.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.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.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)

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