List of variants reported as likely benign for BH4-deficient hyperphenylalaninemia A

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 124

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HGVS	dbSNP	gnomAD frequency
NM_000317.3(PTS):c.315-3T>C	rs189365250	0.00436
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_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.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.144C>T (p.Gly48=)	rs778754646	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_000317.3(PTS):c.312G>A (p.Val104=)	rs148185068	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.121G>A (p.Gly41Arg)	rs372852903	0.00001
NM_000317.3(PTS):c.163+7G>A	rs1384844563	0.00001
NM_000317.3(PTS):c.237T>C (p.Tyr79=)	rs766251710	0.00001
NM_000317.3(PTS):c.279G>C (p.Leu93=)	rs1157712069	0.00001
NM_000317.3(PTS):c.45C>T (p.Ser15=)	rs756084052	0.00001
NM_000317.3(PTS):c.66G>A (p.Ala22=)	rs1859866331	0.00001
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.120T>C (p.Phe40=)
NM_000317.3(PTS):c.123G>A (p.Gly41=)
NM_000317.3(PTS):c.141T>C (p.Asn47=)
NM_000317.3(PTS):c.147T>C (p.His49=)
NM_000317.3(PTS):c.159T>C (p.Tyr53=)	rs781197929
NM_000317.3(PTS):c.163+14_163+15inv
NM_000317.3(PTS):c.163+17T>C
NM_000317.3(PTS):c.164-10C>G
NM_000317.3(PTS):c.164-4A>G
NM_000317.3(PTS):c.164-4A>T	rs780741396
NM_000317.3(PTS):c.164-7T>C	rs1555198232
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+20G>C
NM_000317.3(PTS):c.186+7G>A
NM_000317.3(PTS):c.186+7G>T	rs2135408985
NM_000317.3(PTS):c.187-10T>A
NM_000317.3(PTS):c.187-8T>C
NM_000317.3(PTS):c.21C>T (p.Gly7=)	rs2135407159
NM_000317.3(PTS):c.222T>A (p.Ala74=)
NM_000317.3(PTS):c.228C>A (p.Leu76=)	rs772713545
NM_000317.3(PTS):c.231A>G (p.Lys77=)
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+7G>A
NM_000317.3(PTS):c.243+9A>G	rs200446631
NM_000317.3(PTS):c.244-17C>T
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.249G>A (p.Ala83=)
NM_000317.3(PTS):c.24T>C (p.Arg8=)
NM_000317.3(PTS):c.261C>A (p.Pro87=)
NM_000317.3(PTS):c.273G>A (p.Lys91=)	rs1318726823
NM_000317.3(PTS):c.277C>T (p.Leu93=)
NM_000317.3(PTS):c.291G>A (p.Val97=)	rs2135410310
NM_000317.3(PTS):c.303A>C (p.Ala101=)
NM_000317.3(PTS):c.303A>G (p.Ala101=)
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+20G>A
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.315-20T>C	rs1566817881
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.318G>T (p.Thr106=)
NM_000317.3(PTS):c.327T>C (p.Asn109=)
NM_000317.3(PTS):c.333T>C (p.Ala111=)	rs1320913050
NM_000317.3(PTS):c.369T>C (p.Pro123=)
NM_000317.3(PTS):c.36A>G (p.Ala12=)	rs2135407170
NM_000317.3(PTS):c.372A>G (p.Val124=)
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.405T>G (p.Thr135=)	rs59731976
NM_000317.3(PTS):c.420G>A (p.Val140=)
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.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+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.84-4T>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.9G>A (p.Thr3=)	rs1460470110

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